Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAK2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000327134
Start	196820449:196820449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1232C>T
AA Mutation	p.Ala411Val(p.A411V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000327134
Start	196820490:196820490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1273G>A
AA Mutation	p.Asp425Asn(p.D425N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000327134
Start	196827307:196827307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1462A>G
AA Mutation	p.Arg488Gly(p.R488G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000327134
Start	196806665:196806665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756843915
CDS Mutation	c.555G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327134
Start	196814497:196814497(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.987delG
AA Mutation	p.Ser330HisfsTer6(p.S330Hfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327134
Start	196806661:196806661(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.554delC
AA Mutation	p.Pro185ArgfsTer14(p.P185Rfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327134
Start	196818111:196818111(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1111delA
AA Mutation	p.Ser371ValfsTer67(p.S371Vfs*67)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327134
Start	196827302:196827302(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1462delA
AA Mutation	p.Arg488GlyfsTer13(p.R488Gfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> PAK2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000327134
Start	196807890:196807890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.685G>A
AA Mutation	p.Asp229Asn(p.D229N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000327134
Start	196814541:196814541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1026A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000327134
Start	196807832:196807832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.627A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000327134
Start	196782662:196782662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16G>T
AA Mutation	p.Glu6Ter(p.E6*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript