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.W557ins1

c.1669_1670insTTC

Surrounding Variants

251 papers

NM_000222.3

p.W557R

c.1669T>A

250 papers

NM_000222.3

p.W557R

c.1669T>C

104 papers

NM_000222.3

p.W557G

c.1669T>G

1 paper

NM_000222.3

p.W557insFs

c.1669_1670ins10

1 paper

NM_000222.3

p.W557ins1

c.1670_1671insTAG

2 papers

NM_000222.3

p.W557fs

c.1669_1670fs

2 papers

NM_000222.3

p.W557fs

c.1669_1670fs

1 paper

NM_000222.3

p.W557_K558delins

c.1669_1672delinsG

1 paper

NM_000222.3

p.W557_K558del1

c.1670_1672delGGA

1 paper

NM_000222.3

p.W557_K558delFs

c.1670_1673del4

21 papers

NM_000222.3

p.W557_V559del0

c.1670_1675del6

1 paper

NM_000222.3

p.W557_V559delins

c.1669_1676delinsGGGGAGAA