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

2 papers

NM_000222.3

p.N566Y

c.1696A>T

Surrounding Variants

21 papers

NM_000222.3

p.N566D

c.1696A>G

1 paper

NM_000222.3

p.N566_N567delFs

c.1697_1701del5

1 paper

NM_000222.3

p.N566_Q575del0

c.1697_1723del27

3 papers

NM_000222.3

p.N566T

c.1697A>C

1 paper

NM_000222.3

p.N566del1

c.1696_1697delAAC

1 paper

NM_000222.3

p.N566_P573delFs

c.1696_1718del23

1 paper

NM_000222.3

p.N567_T574delFs

c.1701_1720del20

1 paper

NM_000222.3

p.N566K

c.1698C>A

1 paper

NM_000222.3

p.N566_N567insFs

c.1698_1699insG

1 paper

NM_000222.3

p.N566K

c.1698C>G

4 papers

NM_000222.3

p.N566N

c.1698C>T

1 paper

NM_000222.3

p.N567del1

c.1699_1701delAAT