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.Q515H

c.1545A>T

Surrounding Variants

2 papers

NM_000222.3

p.Q515H

c.1545A>C

1 paper

NM_000222.3

p.Q515K

c.1543C>A

1 paper

NM_000222.3

p.I516T

c.1547T>C

1 paper

NM_000222.3

p.E514G

c.1541A>G

4 papers

NM_000222.3

p.H517Y

c.1549C>T

1 paper

NM_000222.3

p.H517P

c.1550A>C

2 papers

NM_000222.3

p.P518S

c.1552C>T

2 papers

NM_000222.3

p.P518L

c.1553C>T

1 paper

NM_000222.3

p.H519Y

c.1555C>T

1 paper

NM_000222.3

p.T520I

c.1559C>T

2 papers

NM_000222.3

p.F522L

c.1564T>C

81 papers

NM_000222.3

p.F522C

c.1565T>G