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.K826T

c.2477A>C

Surrounding Variants

3 papers

NM_000222.3

p.K826N

c.2478A>C

1 paper

NM_000222.3

p.K826Q

c.2476A>C

3 papers

NM_000222.3

p.K826N

c.2478A>T

4 papers

NM_000222.3

p.G827R

c.2479G>A

4 papers

NM_000222.3

p.G827R

c.2479G>C

1 paper

NM_000222.3

p.G827*

c.2479G>T

1 paper

NM_000222.3

p.G827E

c.2480G>A

1 paper

NM_000222.3

p.N828delFs

c.2483delA

1 paper

NM_000222.3

p.V825D

c.2474T>A

27 papers

NM_000222.3

p.V825A

c.2474T>C

3 papers

NM_000222.3

p.V825G

c.2474T>G

14 papers

NM_000222.3

p.V825I

c.2473G>A