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.G42A

c.125G>C

Surrounding Variants

2 papers

NM_000222.3

p.G42E

c.125G>A

1 paper

NM_000222.3

p.G42V

c.125G>T

1 paper

NM_000222.3

p.G42Fs

c.125delinsTTFs

3 papers

NM_000222.3

p.G42R

c.124G>A

3 papers

NM_000222.3

p.G42R

c.124G>C

2 papers

NM_000222.3

p.K43E

c.127A>G

1 paper

NM_000222.3

p.P41P

c.123A>T

1 paper

NM_000222.3

p.G42delFs

c.124delG

1 paper

NM_000222.3

p.G42delFs

c.124_125delGG

1 paper

NM_000222.3

p.K43I

c.128A>T

1 paper

NM_000222.3

p.P41Q

c.122C>A

3 papers

NM_000222.3

p.P41L

c.122C>T