Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAK3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111173075:111173075(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.869G>C
AA Mutation p.Gly290Ala(p.G290A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111220365:111220365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1598T>A
AA Mutation p.Phe533Tyr(p.F533Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262836
Start 111195843:111195843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1157G>T
AA Mutation p.Cys386Phe(p.C386F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111162992:111162992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764106735
CDS Mutation c.591A>T
AA Mutation p.Glu197Asp(p.E197D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111163687:111163687(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.771A>C
AA Mutation p.Lys257Asn(p.K257N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111162995:111162995(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.594T>A
AA Mutation p.Asp198Glu(p.D198E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000262836
Start 111163720:111163720(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746123616
CDS Mutation c.804G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000262836
Start 111142184:111142184(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376714308
CDS Mutation c.264C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000262836
Start 111162935:111162935(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.534G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000262836
Start 111196556:111196556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61733749
CDS Mutation c.1368G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000262836
Start 111163017:111163017(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.616delA
AA Mutation p.Ile206SerfsTer56(p.I206Sfs*56)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000262836
Start 111162990:111162990(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.589G>T
AA Mutation p.Glu197Ter(p.E197*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000262836
Start 111147800:111147800(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.385A>T
AA Mutation p.Lys129Ter(p.K129*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PAK3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111220443:111220443(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1676G>A
AA Mutation p.Arg559His(p.R559H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262836
Start 111195888:111195888(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1202G>A
AA Mutation p.Arg401Lys(p.R401K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000262836
Start 111142163:111142163(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.243delT
AA Mutation p.His81GlnfsTer42(p.H81Qfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 4
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000262836
Start 111163560:111163560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.646-2A>T
Mutation Classification Splice_Site
Feature Type Transcript