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.Y578H

c.1732T>C

Surrounding Variants

122 papers

NM_000222.3

p.D579del1

c.1735_1736delGAT

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

1 paper

NM_000222.3

p.Y578S

c.1733A>C

23 papers

NM_000222.3

p.Y578C

c.1733A>G

3 papers

NM_000222.3

p.Y578F

c.1733A>T

1 paper

NM_000222.3

p.P577P

c.1731T>C

2 papers

NM_000222.3

p.Y578_P585ins2

c.1732_1755dup24

1 paper

NM_000222.3

p.P577H

c.1730C>A

3 papers

NM_000222.3

p.Y578_D579ins0

c.1732_1737dup6

1 paper

NM_000222.3

p.P577_K581ins1

c.1731_1742dup12