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Mutation
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Colon Cancer: Gene >> GAK
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
851890:851890(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs145818077
CDS Mutation
c.3368G>A
AA Mutation
p.Arg1123Gln(p.R1123Q)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
911762:911762(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.293T>C
AA Mutation
p.Ile98Thr(p.I98T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
876557:876557(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs139900404
CDS Mutation
c.2027G>A
AA Mutation
p.Arg676Gln(p.R676Q)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
866519:866519(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs138100414
CDS Mutation
c.2888C>T
AA Mutation
p.Pro963Leu(p.P963L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
866427:866427(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs745913761
CDS Mutation
c.2980C>T
AA Mutation
p.Pro994Ser(p.P994S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
851873:851873(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs771331071
CDS Mutation
c.3385G>A
AA Mutation
p.Ala1129Thr(p.A1129T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
898097:898097(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.587C>T
AA Mutation
p.Thr196Met(p.T196M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
851872:851872(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.3386C>A
AA Mutation
p.Ala1129Asp(p.A1129D)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
859647:859647(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.3242A>G
AA Mutation
p.Asp1081Gly(p.D1081G)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
missense_variant
Transcription ID
ENST00000314167
Start
849992:849992(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.3734G>T
AA Mutation
p.Gly1245Val(p.G1245V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000314167
Start
904638:904638(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.524A>G
AA Mutation
p.Lys175Arg(p.K175R)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000314167
Start
868685:868685(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.2249G>A
AA Mutation
p.Gly750Glu(p.G750E)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
904727:904727(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs773921829
CDS Mutation
c.435C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
14
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
893401:893401(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.966G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
15
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
868591:868591(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.2343G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
16
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
849685:849685(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.3924G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
17
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
883414:883414(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1305C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
18
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
851805:851805(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs377418158
CDS Mutation
c.3453G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
19
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
866972:866972(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.2856A>G
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
20
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000314167
Start
867155:867155(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs753898629
CDS Mutation
c.2673C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
21
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
851860:851860(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.3398delC
AA Mutation
p.Pro1133LeufsTer23(p.P1133Lfs*23)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
22
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
870772:870772(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.2187delG
AA Mutation
p.Leu730Ter(p.L730*)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
23
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
867278:867278(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.2550delC
AA Mutation
p.Gly851AlafsTer94(p.G851Afs*94)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
24
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
867116:867116(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.2712delC
AA Mutation
p.Ser905ProfsTer40(p.S905Pfs*40)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
25
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
866964:866964(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.2864delC
AA Mutation
p.Pro955LeufsTer36(p.P955Lfs*36)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
26
Mutation Consequence
stop_gained
Transcription ID
ENST00000314167
Start
893943:893943(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.808C>T
AA Mutation
p.Arg270Ter(p.R270*)
Mutation Classification
Nonsense_Mutation
Feature Type
Transcript
Mutation ID
27
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000314167
Start
867186:867187(version: GRCh38)
Mutation Type
INS
dbSNP_RS
novel
CDS Mutation
c.2641dupG
AA Mutation
p.Val881GlyfsTer39(p.V881Gfs*39)
Mutation Classification
Frame_Shift_Ins
Feature Type
Transcript
Rectum Cancer: Gene >> GAK
No Mutation Annotation!