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.N566N

c.1698C>T

Surrounding Variants

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

1 paper

NM_000222.3

p.N567del1

c.1699_1701delAAT

1 paper

NM_000222.3

p.N567_T574del0

c.1700_1720del21

3 papers

NM_000222.3

p.N566T

c.1697A>C

1 paper

NM_000222.3

p.N567D

c.1699A>G

1 paper

NM_000222.3

p.N567Y

c.1699A>T

1 paper

NM_000222.3

p.N567_Q575del0

c.1701_1724del24

1 paper

NM_000222.3

p.N567_L576del0

c.1700_1726del27

1 paper

NM_000222.3

p.N567_T574delFs

c.1701_1720del20

21 papers

NM_000222.3

p.N566D

c.1696A>G