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.V560V

c.1680T>G

Surrounding Variants

7 papers

NM_000222.3

p.E561del1

c.1681_1682delGAG

40 papers

NM_000222.3

p.E561K

c.1681G>A

1 paper

NM_000222.3

p.E561Q

c.1681G>C

1 paper

NM_000222.3

p.E561_Y570delins

c.1681_1710delinsACT

305 papers

NM_000222.3

p.V560D

c.1679T>A

39 papers

NM_000222.3

p.V560A

c.1679T>C

285 papers

NM_000222.3

p.V560G

c.1679T>G

4 papers

NM_000222.3

p.V560delins

c.1679_1680delinsAG

1 paper

NM_000222.3

p.V560_N564delins

c.1679_1691delinsAGGAGATGAT

1 paper

NM_000222.3

p.V560_P573Fs

c.1679_1718delinsCTFs

1 paper

NM_000222.3

p.E561A

c.1682A>C

2 papers

NM_000222.3

p.E561G

c.1682A>G