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.E514*

c.1540G>T

Surrounding Variants

1 paper

NM_000222.3

p.E514Q

c.1540G>C

1 paper

NM_000222.3

p.K513N

c.1539A>C

1 paper

NM_000222.3

p.K513N

c.1539A>T

1 paper

NM_000222.3

p.K513delFs

c.1537delA

4 papers

NM_000222.3

p.N512S

c.1535A>G

1 paper

NM_000222.3

p.N512H

c.1534A>C

2 papers

NM_000222.3

p.N512D

c.1534A>G

1 paper

NM_000222.3

p.E514Splc

c.1540+8T>A

1 paper

NM_000222.3

p.N512_K513del1

c.1536_1538delCAA

1 paper

NM_000222.3

p.G510insFs

c.1530dupT

2 papers

NM_000222.3

p.G510V

c.1529G>T

1 paper

NM_000222.3

p.G510S

c.1528G>A