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.F842_V845del0

c.2524_2535del12

Surrounding Variants

1 paper

NM_000222.3

p.I841T

c.2522T>C

2 papers

NM_000222.3

p.I841V

c.2521A>G

1 paper

NM_000222.3

p.F842Y

c.2525T>A

1 paper

NM_000222.3

p.F842S

c.2525T>C

4 papers

NM_000222.3

p.N843_T847del0

c.2528_2539del12

1 paper

NM_000222.3

p.C844_Y846del0

c.2530_2538del9

14 papers

NM_000222.3

p.S840N

c.2519G>A

1 paper

NM_000222.3

p.S840I

c.2519G>T

1 paper

NM_000222.3

p.S840G

c.2518A>G

1 paper

NM_000222.3

p.N843S

c.2528A>G

1 paper

NM_000222.3

p.N843I

c.2528A>T

1 paper

NM_000222.3

p.E839D

c.2517A>C