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.I798V

c.2392A>G

Surrounding Variants

1 paper

NM_000222.3

p.I798F

c.2392A>T

1 paper

NM_000222.3

p.N797N

c.2391T>C

1 paper

NM_000222.3

p.I798T

c.2393T>C

1 paper

NM_000222.3

p.I798S

c.2393T>G

1 paper

NM_000222.3

p.N797S

c.2390A>G

1 paper

NM_000222.3

p.I798I

c.2394C>A

19 papers

NM_000222.3

p.I798I

c.2394C>T

1 paper

NM_000222.3

p.N797D

c.2389A>G

9 papers

NM_000222.3

p.L799F

c.2395C>T

4 papers

NM_000222.3

p.R796K

c.2387G>A

18 papers

NM_000222.3

p.R796G

c.2386A>G

1 paper

NM_000222.3

p.R796*

c.2386A>T