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.K209R

c.626A>G

Surrounding Variants

5 papers

NM_000222.3

p.K209T

c.626A>C

3 papers

NM_000222.3

p.K209I

c.626A>T

1 paper

NM_000222.3

p.K209N

c.627A>C

2 papers

NM_000222.3

p.K209N

c.627A>T

1 paper

NM_000222.3

p.A210S

c.628G>T

1 paper

NM_000222.3

p.A210V

c.629C>T

2 papers

NM_000222.3

p.V211_V213del3

c.631_638del9

1 paper

NM_000222.3

p.F208S

c.623T>C

1 paper

NM_000222.3

p.F208C

c.623T>G

1 paper

NM_000222.3

p.F208V

c.622T>G

1 paper

NM_000222.3

p.A210_V211insFs

c.630_631insA

1 paper

NM_000222.3

p.A207A

c.621C>T