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.K94Q

c.280A>C

Surrounding Variants

1 paper

NM_000222.3

p.K94E

c.280A>G

1 paper

NM_000222.3

p.K94*

c.280A>T

1 paper

NM_000222.3

p.K94R

c.281A>G

1 paper

NM_000222.3

p.G93D

c.278G>A

3 papers

NM_000222.3

p.G93S

c.277G>A

1 paper

NM_000222.3

p.G93C

c.277G>T

1 paper

NM_000222.3

p.Y95H

c.283T>C

1 paper

NM_000222.3

p.Y95delFs

c.284delA

1 paper

NM_000222.3

p.Y95C

c.284A>G

1 paper

NM_000222.3

p.T92N

c.275C>A

1 paper

NM_000222.3

p.Y95*

c.285C>A

1 paper

NM_000222.3

p.T92S

c.275C>G