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.Y418_D419ins2

c.1254_1255ins6

Surrounding Variants

1 paper

NM_000222.3

p.D419insFs

c.1256_1257ins7

1 paper

NM_000222.3

p.D419ins2

c.1255_1256ins6

2 papers

NM_000222.3

p.Y418ins2

c.1253_1254ins6

2 papers

NM_000222.3

p.Y418_D419ins2

c.1254_1255ins6

2 papers

NM_000222.3

p.Y418S

c.1253A>C

1 paper

NM_000222.3

p.Y418C

c.1253A>G

1 paper

NM_000222.3

p.Y418F

c.1253A>T

1 paper

NM_000222.3

p.Y418_D419delFs

c.1254_1255delCG

1 paper

NM_000222.3

p.Y418_R420delins

c.1253_1258delinsCCG

1 paper

NM_000222.3

p.D419_L421del3

c.1255_1262del9

5 papers

NM_000222.3

p.Y418*

c.1254C>A

1 paper

NM_000222.3

p.Y418_D419ins2

c.1254_1255ins6