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.M624I

c.1872G>C

Surrounding Variants

2 papers

NM_000222.3

p.M624I

c.1872G>A

1 paper

NM_000222.3

p.M624I

c.1872G>T

1 paper

NM_000222.3

p.L625F

c.1873C>T

1 paper

NM_000222.3

p.M624T

c.1871T>C

1 paper

NM_000222.3

p.K623N

c.1869G>C

1 paper

NM_000222.3

p.K623N

c.1869G>T

1 paper

NM_000222.3

p.K623R

c.1868A>G

3 papers

NM_000222.3

p.K623M

c.1868A>T

1 paper

NM_000222.3

p.K626R

c.1877A>G

1 paper

NM_000222.3

p.K623*

c.1867A>T

9 papers

NM_000222.3

p.P627T

c.1879C>A

4 papers

NM_000222.3

p.P627S

c.1879C>T