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.G598V

c.1793G>T

Surrounding Variants

1 paper

NM_000222.3

p.A599T

c.1795G>A

1 paper

NM_000222.3

p.A599S

c.1795G>T

1 paper

NM_000222.3

p.A597D

c.1790C>A

1 paper

NM_000222.3

p.A597V

c.1790C>T

1 paper

NM_000222.3

p.A599V

c.1796C>T

4 papers

NM_000222.3

p.A597T

c.1789G>A

1 paper

NM_000222.3

p.A599_F600ins1

c.1797_1798insACA

1 paper

NM_000222.3

p.F600_G601del2

c.1798_1802del6

5 papers

NM_000222.3

p.G596D

c.1787G>A

1 paper

NM_000222.3

p.G596V

c.1787G>T

13 papers

NM_000222.3

p.F600Y

c.1799T>A

1 paper

NM_000222.3

p.F600C

c.1799T>G