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.D579A

c.1736A>C

Surrounding Variants

4 papers

NM_000222.3

p.D579G

c.1736A>G

1 paper

NM_000222.3

p.D579V

c.1736A>T

6 papers

NM_000222.3

p.D579N

c.1735G>A

3 papers

NM_000222.3

p.D579H

c.1735G>C

2 papers

NM_000222.3

p.D579_H580ins9

c.1735_1739ins27

2 papers

NM_000222.3

p.D579Y

c.1735G>T

1 paper

NM_000222.3

p.D579E

c.1737T>A

1 paper

NM_000222.3

p.D579E

c.1737T>G

1 paper

NM_000222.3

p.D579_H580insFs

c.1737_1738ins7

1 paper

NM_000222.3

p.H580del1

c.1738_1739delCAC

1 paper

NM_000222.3

p.H580_P585del0

c.1738_1755del18

1 paper

NM_000222.3

p.H580N

c.1738C>A