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.G565ins1

c.1694_1695insTCC

Surrounding Variants

8 papers

NM_000222.3

p.G565E

c.1694G>A

1 paper

NM_000222.3

p.G565A

c.1694G>C

1 paper

NM_000222.3

p.G565insFs

c.1694_1695ins4

1 paper

NM_000222.3

p.G565ins1

c.1694_1695insCCA

15 papers

NM_000222.3

p.G565V

c.1694G>T

1 paper

NM_000222.3

p.G565_N566Fs

c.1694_1696delinsCAACFs

4 papers

NM_000222.3

p.N566_T574del0

c.1697_1720del24

1 paper

NM_000222.3

p.G565_P577del0

c.1695_1730del36

1 paper

NM_000222.3

p.N566del1

c.1696_1697delAAC

1 paper

NM_000222.3

p.N566_P573delFs

c.1696_1718del23

13 papers

NM_000222.3

p.G565R

c.1693G>A

13 papers

NM_000222.3

p.G565R

c.1693G>C