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.Y545*

c.1635C>A

Surrounding Variants

1 paper

NM_000222.3

p.Y545*

c.1635C>G

1 paper

NM_000222.3

p.Y545S

c.1634A>C

1 paper

NM_000222.3

p.Y545C

c.1634A>G

1 paper

NM_000222.3

p.Y545F

c.1634A>T

1 paper

NM_000222.3

p.Y545H

c.1633T>C

1 paper

NM_000222.3

p.K546N

c.1638A>C

24 papers

NM_000222.3

p.K546K

c.1638A>G

1 paper

NM_000222.3

p.K546N

c.1638A>T

1 paper

NM_000222.3

p.T544I

c.1631C>T

1 paper

NM_000222.3

p.Y547_L548insAA

c.1639_1643ins6

1 paper

NM_000222.3

p.T544insFs

c.1630_1631ins5

1 paper

NM_000222.3

p.Y547C

c.1640A>G