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.G592E

c.1775G>A

Surrounding Variants

1 paper

NM_000222.3

p.G592fs

c.1774_1775fs

3 papers

NM_000222.3

p.T594I

c.1781C>T

1 paper

NM_000222.3

p.T594_L595Fs

c.1782_1783delinsGFs

3 papers

NM_000222.3

p.L595P

c.1784T>C

1 paper

NM_000222.3

p.L595_G596insFs

c.1785_1786insA

2 papers

NM_000222.3

p.G596S

c.1786G>A

12 papers

NM_000222.3

p.G596R

c.1786G>C

1 paper

NM_000222.3

p.G596C

c.1786G>T

5 papers

NM_000222.3

p.G596D

c.1787G>A

1 paper

NM_000222.3

p.G596V

c.1787G>T

4 papers

NM_000222.3

p.A597T

c.1789G>A

1 paper

NM_000222.3

p.A597D

c.1790C>A