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.D816delins

c.2446_2447delinsAT

Surrounding Variants

26 papers

NM_000222.3

p.D816N

c.2446G>A

357 papers

NM_000222.3

p.D816H

c.2446G>C

317 papers

NM_000222.3

p.D816Y

c.2446G>T

1 paper

NM_000222.3

p.D816delins

c.2446_2447delinsTT

1 paper

NM_000222.3

p.D816delins

c.2446_2448delinsCAT

1 paper

NM_000222.3

p.D816_N819delins

c.2446_2456delinsATCAT

46 papers

NM_000222.3

p.D816A

c.2447A>C

1 paper

NM_000222.3

p.R815S

c.2445A>C

49 papers

NM_000222.3

p.D816G

c.2447A>G

1371 papers

NM_000222.3

p.D816V

c.2447A>T

NM_001093772.2

p.D812V

c.2435A>T

1 paper

NM_000222.3

p.R815S

c.2445A>T

4 papers

NM_000222.3

p.D816del1

c.2446_2448delGAC