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.L223I

c.667C>A

Surrounding Variants

1 paper

NM_000222.3

p.L223V

c.667C>G

1 paper

NM_000222.3

p.L223F

c.667C>T

1 paper

NM_000222.3

p.L223fs

c.667_668fs

1 paper

NM_000222.3

p.L223P

c.668T>C

2 papers

NM_000222.3

p.L223R

c.668T>G

1 paper

NM_000222.3

p.L222H

c.665T>A

1 paper

NM_000222.3

p.L222_R224delFs

c.666_670del5

3 papers

NM_000222.3

p.R224G

c.670A>G

1 paper

NM_000222.3

p.R224W

c.670A>T

1 paper

NM_000222.3

p.L222V

c.664C>G

2 papers

NM_000222.3

p.L222F

c.664C>T

1 paper

NM_000222.3

p.R224K

c.671G>A