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.Y570H

c.1708T>C

Surrounding Variants

1 paper

NM_000222.3

p.Y570D

c.1708T>G

1 paper

NM_000222.3

p.I571_D572ins0

c.1711_1716dup6

1 paper

NM_000222.3

p.Y570insFs

c.1708_1709ins8

1 paper

NM_000222.3

p.Y570_D579ins3

c.1710_1736dup27

1 paper

NM_000222.3

p.Y570ins10

c.1708_1709ins30

1 paper

NM_000222.3

p.Y570_E583ins4

c.1710_1748dup39

1 paper

NM_000222.3

p.Y570fs

c.1708_1709fs

1 paper

NM_000222.3

p.Y570_E583del0

c.1710_1748del39

1 paper

NM_000222.3

p.Y570insFs

c.1709_1710insC

1 paper

NM_000222.3

p.Y570_W582ins4

c.1710_1745dup36

1 paper

NM_000222.3

p.I571_P585ins5

c.1711_1755dup45

3 papers

NM_000222.3

p.Y570S

c.1709A>C