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

4 papers

NM_000222.3

p.G328R

c.982G>C

Surrounding Variants

2 papers

NM_000222.3

p.G328R

c.982G>A

1 paper

NM_000222.3

p.G328*

c.982G>T

1 paper

NM_000222.3

p.G328E

c.983G>A

1 paper

NM_000222.3

p.G328A

c.983G>C

1 paper

NM_000222.3

p.D327E

c.981T>A

1 paper

NM_000222.3

p.D327E

c.981T>G

5 papers

NM_000222.3

p.D327N

c.979G>A

2 papers

NM_000222.3

p.E329K

c.985G>A

2 papers

NM_000222.3

p.D327H

c.979G>C

1 paper

NM_000222.3

p.E329A

c.986A>C

2 papers

NM_000222.3

p.N326K

c.978C>A

2 papers

NM_000222.3

p.N326K

c.978C>G