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.T661A

c.1981A>G

Surrounding Variants

1 paper

NM_000222.3

p.C660*

c.1980C>A

1 paper

NM_000222.3

p.T661ins1

c.1982_1983insCAT

2 papers

NM_000222.3

p.T661I

c.1982C>T

2 papers

NM_000222.3

p.I662_G663insI

c.1984_1988ins3

1 paper

NM_000222.3

p.I662L

c.1984A>C

3 papers

NM_000222.3

p.C660R

c.1978T>C

1 paper

NM_000222.3

p.A659A

c.1977C>G

1 paper

NM_000222.3

p.A659V

c.1976C>T

1 paper

NM_000222.3

p.G663R

c.1987G>A

1 paper

NM_000222.3

p.G663R

c.1987G>C

1 paper

NM_000222.3

p.G663E

c.1988G>A

1 paper

NM_000222.3

p.G663V

c.1988G>T