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.R5R

c.15C>T

Surrounding Variants

1 paper

NM_000222.3

p.G6_L14insFs

c.17_42dup26

1 paper

NM_000222.3

p.R5R

c.15C>G

1 paper

NM_000222.3

p.R5L

c.14G>T

1 paper

NM_000222.3

p.R5insFs

c.14_15insG

1 paper

NM_000222.3

p.R5C

c.13C>T

1 paper

NM_000222.3

p.R5_G6del1

c.14_16delGCG

1 paper

NM_000222.3

p.G6V

c.17G>T

2 papers

NM_000222.3

p.G6G

c.18C>A

1 paper

NM_000222.3

p.A4A

c.12T>C

1 paper

NM_000222.3

p.A4insFs

c.12dupT

1 paper

NM_000222.3

p.A4V

c.11C>T

2 papers

NM_000222.3

p.A7T

c.19G>A