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

8 papers

NM_000222.3

p.K558Q

c.1672A>C

Surrounding Variants

1 paper

NM_000222.3

p.K558ins1

c.1673_1674insCCA

1 paper

NM_000222.3

p.K558insFs

c.1672_1673insGG

1 paper

NM_000222.3

p.K558_V559ins5

c.1672_1676ins15

26 papers

NM_000222.3

p.K558E

c.1672A>G

1 paper

NM_000222.3

p.K558fs

c.1672_1673fs

3 papers

NM_000222.3

p.K558_V560del0

c.1673_1678del6

6 papers

NM_000222.3

p.V559_E562del0

c.1676_1684del9

4 papers

NM_000222.3

p.K558_G565del0

c.1673_1693del21

1 paper

NM_000222.3

p.K558_G565delFs

c.1674_1695del22

3 papers

NM_000222.3

p.K558_D572del0

c.1674_1715del42

1 paper

NM_000222.3

p.K558_P573del0

c.1673_1717del45

1 paper

NM_000222.3

p.K558ins3

c.1673_1674ins9