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.G812R

c.2434G>C

Surrounding Variants

1 paper

NM_000222.3

p.G812S

c.2434G>A

2 papers

NM_000222.3

p.G812C

c.2434G>T

4 papers

NM_000222.3

p.G812D

c.2435G>A

15 papers

NM_000222.3

p.G812V

c.2435G>T

2 papers

NM_000222.3

p.F811L

c.2433T>A

2 papers

NM_000222.3

p.F811F

c.2433T>C

1 paper

NM_000222.3

p.F811L

c.2433T>G

1 paper

NM_000222.3

p.G812del1

c.2434_2436delGGT

1 paper

NM_000222.3

p.L813I

c.2437C>A

1 paper

NM_000222.3

p.F811L

c.2431T>C

3 papers

NM_000222.3

p.F811V

c.2431T>G

1 paper

NM_000222.3

p.D810E

c.2430T>A