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

37 papers

NM_000222.3

p.K558N

c.1674G>C

Surrounding Variants

2 papers

NM_000222.3

p.K558K

c.1674G>A

36 papers

NM_000222.3

p.K558N

c.1674G>T

118 papers

NM_000222.3

p.V560del1

c.1678_1679delGTT

5 papers

NM_000222.3

p.V559_E561del0

c.1676_1681del6

NM_001093772.2

p.V555_V556del0

c.1663_1668del6

2 papers

NM_000222.3

p.V559_N564del0

c.1675_1692del18

5 papers

NM_000222.3

p.V559_G565del7

c.1675_1694del21

2 papers

NM_000222.3

p.V559_D572del0

c.1676_1714del39

2 papers

NM_000222.3

p.V559_P573del15

c.1675_1718del45

1 paper

NM_000222.3

p.K558ins3

c.1673_1674ins9

7 papers

NM_000222.3

p.K558ins1

c.1673_1674insTCC

2 papers

NM_000222.3

p.K558T

c.1673A>C

13 papers

NM_000222.3

p.K558R

c.1673A>G