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.H485Q

c.1455C>A

Surrounding Variants

1 paper

NM_000222.3

p.H485Q

c.1455C>G

1 paper

NM_000222.3

p.N486_G487insA

c.1456_1460ins3

1 paper

NM_000222.3

p.N486D

c.1456A>G

1 paper

NM_000222.3

p.N486S

c.1457A>G

2 papers

NM_000222.3

p.N486I

c.1457A>T

1 paper

NM_000222.3

p.H485D

c.1453C>G

1 paper

NM_000222.3

p.N486K

c.1458T>A

1 paper

NM_000222.3

p.N486K

c.1458T>G

4 papers

NM_000222.3

p.K484R

c.1451A>G

1 paper

NM_000222.3

p.G487D

c.1460G>A

1 paper

NM_000222.3

p.G487V

c.1460G>T

1 paper

NM_000222.3

p.G487delFs

c.1461delC