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

2 papers

NM_000222.3

p.V560F

c.1678G>T

Surrounding Variants

3 papers

NM_000222.3

p.V560I

c.1678G>A

1 paper

NM_000222.3

p.V560L

c.1678G>C

1 paper

NM_000222.3

p.V560_T574del0

c.1679_1720del42

305 papers

NM_000222.3

p.V560D

c.1679T>A

39 papers

NM_000222.3

p.V560A

c.1679T>C

1 paper

NM_000222.3

p.V559V

c.1677T>C

285 papers

NM_000222.3

p.V560G

c.1679T>G

1 paper

NM_000222.3

p.V560_G565del0

c.1678_1695del18

1 paper

NM_000222.3

p.V560_D572del0

c.1679_1714del36

4 papers

NM_000222.3

p.V560delins

c.1679_1680delinsAG

1 paper

NM_000222.3

p.V560_N564delins

c.1679_1691delinsAGGAGATGAT

1 paper

NM_000222.3

p.V560_P573Fs

c.1679_1718delinsCTFs