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.K642I

c.1925A>T

Surrounding Variants

5 papers

NM_000222.3

p.K642T

c.1925A>C

6 papers

NM_000222.3

p.K642R

c.1925A>G

1 paper

NM_000222.3

p.V643insFs

c.1927dupG

1 paper

NM_000222.3

p.K642fs

c.1924_1925fs

10 papers

NM_000222.3

p.K642Q

c.1924A>C

4 papers

NM_000222.3

p.K642N

c.1926A>C

440 papers

NM_000222.3

p.K642E

c.1924A>G

1 paper

NM_000222.3

p.K642K

c.1926A>G

4 papers

NM_000222.3

p.K642N

c.1926A>T

1 paper

NM_000222.3

p.K642*

c.1924A>T

1 paper

NM_000222.3

p.K642_Y646delins

c.1924_1936delinsGAAGTCCTGAGTC

1 paper

NM_000222.3

p.K642insFs

c.1926dupA