Varaico: Literature-Extracted Genetic Variants

KIT

4,821 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical...

Pfam Domains

igaa 219–304UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 421–542UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 590–924UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

KIT proto-oncogene, receptor tyrosine kinase

HGNC Previous Symbol

PBT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000222.3

p.D361Y

c.1081G>T

Surrounding Variants

1 paper

NM_000222.3

p.D361N

c.1081G>A

2 papers

NM_000222.3

p.D361H

c.1081G>C

1 paper

NM_000222.3

p.D361delFs

c.1082delA

1 paper

NM_000222.3

p.E360_D361ins1

c.1080_1081insCAG

2 papers

NM_000222.3

p.E360D

c.1080A>C

2 papers

NM_000222.3

p.D361A

c.1082A>C

2 papers

NM_000222.3

p.E360D

c.1080A>T

2 papers

NM_000222.3

p.E360G

c.1079A>G

1 paper

NM_000222.3

p.E360V

c.1079A>T

1 paper

NM_000222.3

p.D361E

c.1083T>A

1 paper

NM_000222.3

p.D361E

c.1083T>G

1 paper

NM_000222.3

p.E360K

c.1078G>A