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.A4T

c.10G>A

Surrounding Variants

1 paper

NM_000222.3

p.A4S

c.10G>T

1 paper

NM_000222.3

p.G3G

c.9C>A

1 paper

NM_000222.3

p.A4insFs

c.10dupG

1 paper

NM_000222.3

p.G3_A4insFs

c.9_10insT

1 paper

NM_000222.3

p.A4insFs

c.12dupT

1 paper

NM_000222.3

p.A4V

c.11C>T

1 paper

NM_000222.3

p.G3D

c.8G>A

1 paper

NM_000222.3

p.G3A

c.8G>C

1 paper

NM_000222.3

p.G3insFs

c.8_9insT

1 paper

NM_000222.3

p.A4A

c.12T>C

1 paper

NM_000222.3

p.R5insFs

c.14_15insG

1 paper

NM_000222.3

p.R5C

c.13C>T