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.E336V

c.1007A>T

Surrounding Variants

1 paper

NM_000222.3

p.E336D

c.1008A>C

1 paper

NM_000222.3

p.E336D

c.1008A>T

1 paper

NM_000222.3

p.E336K

c.1006G>A

1 paper

NM_000222.3

p.E336Q

c.1006G>C

1 paper

NM_000222.3

p.E336*

c.1006G>T

1 paper

NM_000222.3

p.Y337_E338delFs

c.1011_1014del4

1 paper

NM_000222.3

p.Y337C

c.1010A>G

1 paper

NM_000222.3

p.V335A

c.1004T>C

1 paper

NM_000222.3

p.V335Fs

c.1003delinsGAFs

1 paper

NM_000222.3

p.E338insFs

c.1013_1014ins5

6 papers

NM_000222.3

p.E338K

c.1012G>A

1 paper

NM_000222.3

p.I334M

c.1002T>G