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.Q556ins0

c.1666_1668dupCAG

Surrounding Variants

8 papers

NM_000222.3

p.Q556del1

c.1666_1667delCAG

3 papers

NM_000222.3

p.Q556_W557del0

c.1666_1671del6

1 paper

NM_000222.3

p.V555_W557delins

c.1665_1671delinsTCAT

2 papers

NM_000222.3

p.V555_K558delins

c.1665_1672delinsCC

3 papers

NM_000222.3

p.Q556_K558del3

c.1666_1673del9

6 papers

NM_000222.3

p.Q556_V560del5

c.1666_1679del15

2 papers

NM_000222.3

p.Q556_E561del6

c.1666_1682del18

1 paper

NM_000222.3

p.Q556K

c.1666C>A

1 paper

NM_000222.3

p.Q556fs

c.1666_1667fs

1 paper

NM_000222.3

p.Q556E

c.1666C>G

1 paper

NM_000222.3

p.Q556*

c.1666C>T

1 paper

NM_000222.3

p.Q556fs

c.1666_1667fs