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.D572_R586ins5

c.1716_1757dup42

Surrounding Variants

1 paper

NM_000222.3

p.H580ins9

c.1739_1740ins27

1 paper

NM_000222.3

p.P573_P585ins4

c.1717_1755dup39

1 paper

NM_000222.3

p.P585ins14

c.1754_1755ins42

1 paper

NM_000222.3

p.D572ins2

c.1715_1716ins6

12 papers

NM_000222.3

p.D572A

c.1715A>C

10 papers

NM_000222.3

p.D572G

c.1715A>G

1 paper

NM_000222.3

p.D572E

c.1716C>A

2 papers

NM_000222.3

p.D572_P573ins2

c.1716_1717ins6

1 paper

NM_000222.3

p.P573_P585ins4

c.1719_1754dup36

2 papers

NM_000222.3

p.P573_R586ins4

c.1717_1758dup42

1 paper

NM_000222.3

p.P573_L589ins5

c.1718_1765dup48

1 paper

NM_000222.3

p.D572E

c.1716C>G