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

6 papers

NM_000222.3

p.N822D

c.2464A>G

Surrounding Variants

33 papers

NM_000222.3

p.N822H

c.2464A>C

93 papers

NM_000222.3

p.N822Y

c.2464A>T

1 paper

NM_000222.3

p.Y823del1

c.2467_2468delTAT

5 papers

NM_000222.3

p.N822T

c.2465A>C

3 papers

NM_000222.3

p.N822S

c.2465A>G

45 papers

NM_000222.3

p.N822I

c.2465A>T

4 papers

NM_000222.3

p.S821Y

c.2462C>A

1 paper

NM_000222.3

p.S821C

c.2462C>G

9 papers

NM_000222.3

p.S821F

c.2462C>T

1 paper

NM_000222.3

p.S821_N822delins

c.2462_2464delinsTTT

438 papers

NM_000222.3

p.N822K

c.2466T>A

431 papers

NM_000222.3

p.N822K

c.2466T>G