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

6 papers

NM_000222.3

p.D579N

c.1735G>A

Surrounding Variants

3 papers

NM_000222.3

p.D579H

c.1735G>C

2 papers

NM_000222.3

p.D579_H580ins9

c.1735_1739ins27

2 papers

NM_000222.3

p.D579Y

c.1735G>T

1 paper

NM_000222.3

p.D579A

c.1736A>C

4 papers

NM_000222.3

p.D579G

c.1736A>G

1 paper

NM_000222.3

p.D579V

c.1736A>T

1 paper

NM_000222.3

p.D579_E583ins1

c.1737_1748dup12

1 paper

NM_000222.3

p.D579_P585ins2

c.1735_1755dup21

1 paper

NM_000222.3

p.D579_H580delFs

c.1735_1738del4

1 paper

NM_000222.3

p.D579_F584ins2

c.1735_1752dup18

1 paper

NM_000222.3

p.D579_S590ins4

c.1735_1770dup36

2 papers

NM_000222.3

p.D579_F591ins4

c.1735_1773dup39