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.S220T

c.659G>C

Surrounding Variants

1 paper

NM_000222.3

p.S220I

c.659G>T

1 paper

NM_000222.3

p.S220G

c.658A>G

1 paper

NM_000222.3

p.S220C

c.658A>T

3 papers

NM_000222.3

p.Y221N

c.661T>A

1 paper

NM_000222.3

p.Y221D

c.661T>G

1 paper

NM_000222.3

p.Y221insFs

c.662_663insG

1 paper

NM_000222.3

p.Y221S

c.662A>C

2 papers

NM_000222.3

p.Y221C

c.662A>G

1 paper

NM_000222.3

p.A219E

c.656C>A

1 paper

NM_000222.3

p.A219G

c.656C>G

4 papers

NM_000222.3

p.A219V

c.656C>T

1 paper

NM_000222.3

p.A219T

c.655G>A