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.T523delFs

c.1567delA

Surrounding Variants

2 papers

NM_000222.3

p.F522L

c.1566C>A

2 papers

NM_000222.3

p.F522L

c.1566C>G

1 paper

NM_000222.3

p.T523fs

c.1567_1568fs

1 paper

NM_000222.3

p.P524del1

c.1570_1571delCCT

81 papers

NM_000222.3

p.F522C

c.1565T>G

1 paper

NM_000222.3

p.T523N

c.1568C>A

1 paper

NM_000222.3

p.T523I

c.1568C>T

2 papers

NM_000222.3

p.F522L

c.1564T>C

1 paper

NM_000222.3

p.P524insFs

c.1570_1571ins8

1 paper

NM_000222.3

p.P524S

c.1570C>T

3 papers

NM_000222.3

p.P524L

c.1571C>T

1 paper

NM_000222.3

p.T520I

c.1559C>T