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

151 papers

NM_000222.3

p.V559G

c.1676T>G

Surrounding Variants

342 papers

NM_000222.3

p.V559D

c.1676T>A

260 papers

NM_000222.3

p.V559A

c.1676T>C

1 paper

NM_000222.3

p.V559_E561delins

c.1676_1681delinsGTG

1 paper

NM_000222.3

p.V560_N564del5

c.1678_1691del15

1 paper

NM_000222.3

p.V559_G565delins

c.1676_1694delinsA

1 paper

NM_000222.3

p.V559_G565delFs

c.1677_1695del19

1 paper

NM_000222.3

p.V559_P573delins

c.1676_1718delinsA

1 paper

NM_000222.3

p.V559_P573del0

c.1677_1718del42

76 papers

NM_000222.3

p.V559I

c.1675G>A

2 papers

NM_000222.3

p.V559L

c.1675G>C

6 papers

NM_000222.3

p.V559F

c.1675G>T

2 papers

NM_000222.3

p.V559_N566del0

c.1676_1696del21