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.E562*

c.1684G>T

Surrounding Variants

10 papers

NM_000222.3

p.E562K

c.1684G>A

5 papers

NM_000222.3

p.E562Q

c.1684G>C

1 paper

NM_000222.3

p.E562G

c.1685A>G

5 papers

NM_000222.3

p.E562V

c.1685A>T

1 paper

NM_000222.3

p.E562delFs

c.1686delG

1 paper

NM_000222.3

p.E562_Y570delFs

c.1686_1708del23

4 papers

NM_000222.3

p.E561E

c.1683G>A

2 papers

NM_000222.3

p.E561D

c.1683G>C

2 papers

NM_000222.3

p.E561D

c.1683G>T

1 paper

NM_000222.3

p.E562_L576del0

c.1684_1728del45

1 paper

NM_000222.3

p.E561A

c.1682A>C

2 papers

NM_000222.3

p.E561G

c.1682A>G