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.D332E

c.996T>G

Surrounding Variants

1 paper

NM_000222.3

p.D332E

c.996T>A

1 paper

NM_000222.3

p.D332G

c.995A>G

1 paper

NM_000222.3

p.L333delFs

c.998delT

3 papers

NM_000222.3

p.D332H

c.994G>C

1 paper

NM_000222.3

p.D332_Y337insFs

c.995_1011dup17

2 papers

NM_000222.3

p.D332Y

c.994G>T

1 paper

NM_000222.3

p.L333*

c.998T>A

1 paper

NM_000222.3

p.V331V

c.993A>G

1 paper

NM_000222.3

p.L333F

c.999G>C

2 papers

NM_000222.3

p.L333F

c.999G>T

1 paper

NM_000222.3

p.V331A

c.992T>C

1 paper

NM_000222.3

p.V331L

c.991G>C