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

1–12 of 4271 variants

1371 papers

NM_000222.3

p.D816V

c.2447A>T

504 papers

NM_000222.3

p.L576P

c.1727T>C

440 papers

NM_000222.3

p.K642E

c.1924A>G

438 papers

NM_000222.3

p.N822K

c.2466T>A

431 papers

NM_000222.3

p.N822K

c.2466T>G

357 papers

NM_000222.3

p.D816H

c.2446G>C

342 papers

NM_000222.3

p.V559D

c.1676T>A

317 papers

NM_000222.3

p.D816Y

c.2446G>T

312 papers

NM_000222.3

p.V654A

c.1961T>C

305 papers

NM_000222.3

p.V560D

c.1679T>A

285 papers

NM_000222.3

p.V560G

c.1679T>G

272 papers

NM_000222.3

p.M541L

c.1621A>C