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

4 papers

NM_000222.3

p.T607T

c.1821T>A

Surrounding Variants

4 papers

NM_000222.3

p.T607I

c.1820C>T

1 paper

NM_000222.3

p.T607A

c.1819A>G

3 papers

NM_000222.3

p.A608D

c.1823C>A

1 paper

NM_000222.3

p.A608V

c.1823C>T

2 papers

NM_000222.3

p.A606T

c.1816G>A

7 papers

NM_000222.3

p.G610D

c.1829G>A

1 paper

NM_000222.3

p.E605delFs

c.1814_1815delAG

1 paper

NM_000222.3

p.V604D

c.1811T>A

1 paper

NM_000222.3

p.V604A

c.1811T>C

1 paper

NM_000222.3

p.E605_A608ins1

c.1813_1824dup12

1 paper

NM_000222.3

p.V604I

c.1810G>A

1 paper

NM_000222.3

p.V604F

c.1810G>T