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.V530L

c.1588G>T

Surrounding Variants

70 papers

NM_000222.3

p.V530I

c.1588G>A

1 paper

NM_000222.3

p.V530L

c.1588G>C

1 paper

NM_000222.3

p.F529F

c.1587C>T

1 paper

NM_000222.3

p.F529S

c.1586T>C

2 papers

NM_000222.3

p.F529C

c.1586T>G

1 paper

NM_000222.3

p.I531fs

c.1591_1592fs

1 paper

NM_000222.3

p.I531L

c.1591A>C

1 paper

NM_000222.3

p.I531V

c.1591A>G

1 paper

NM_000222.3

p.F529insFs

c.1585_1586insC

1 paper

NM_000222.3

p.I531T

c.1592T>C

1 paper

NM_000222.3

p.I531delFs

c.1593delC

1 paper

NM_000222.3

p.V532ins5

c.1594_1595ins15