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.V214M

c.640G>A

Surrounding Variants

3 papers

NM_000222.3

p.V214L

c.640G>C

3 papers

NM_000222.3

p.V214L

c.640G>T

1 paper

NM_000222.3

p.V214A

c.641T>C

1 paper

NM_000222.3

p.V214V

c.642G>T

1 paper

NM_000222.3

p.V213A

c.638T>C

1 paper

NM_000222.3

p.V213G

c.638T>G

3 papers

NM_000222.3

p.S215_S217del0

c.645_650del6

1 paper

NM_000222.3

p.V213I

c.637G>A

1 paper

NM_000222.3

p.V213_V214insT

c.637_641ins3

1 paper

NM_000222.3

p.S215T

c.643T>A

1 paper

NM_000222.3

p.S215insFs

c.643_644insA

1 paper

NM_000222.3

p.S215fs

c.643_644fs