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.A621V

c.1862C>T

Surrounding Variants

3 papers

NM_000222.3

p.A621D

c.1862C>A

10 papers

NM_000222.3

p.A621T

c.1861G>A

2 papers

NM_000222.3

p.A621P

c.1861G>C

3 papers

NM_000222.3

p.A621S

c.1861G>T

1 paper

NM_000222.3

p.V620V

c.1860C>T

1 paper

NM_000222.3

p.V622insFs

c.1865dupT

8 papers

NM_000222.3

p.V620A

c.1859T>C

1 paper

NM_000222.3

p.V622ins1

c.1865_1866insGAA

1 paper

NM_000222.3

p.K623*

c.1867A>T

1 paper

NM_000222.3

p.K623R

c.1868A>G

3 papers

NM_000222.3

p.K623M

c.1868A>T

2 papers

NM_000222.3

p.T619A

c.1855A>G