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

2 papers

NM_000222.3

p.S24delFs

c.72delT

Surrounding Variants

1 paper

NM_000222.3

p.S24insFs

c.72dupT

1 paper

NM_000222.3

p.S24C

c.71C>G

3 papers

NM_000222.3

p.S24F

c.71C>T

1 paper

NM_000222.3

p.S25P

c.73T>C

1 paper

NM_000222.3

p.S25insFs

c.74dupC

1 paper

NM_000222.3

p.S25F

c.74C>T

1 paper

NM_000222.3

p.G23D

c.68G>A

1 paper

NM_000222.3

p.G23_S24delFs

c.68_71del4

1 paper

NM_000222.3

p.Q26delFs

c.76delC

1 paper

NM_000222.3

p.G23insFs

c.68dupG

1 paper

NM_000222.3

p.G23Splc

c.68-2A>G

1 paper

NM_000222.3

p.Q26E

c.76C>G