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.C537S

c.1610G>C

Surrounding Variants

1 paper

NM_000222.3

p.C537_I539del0

c.1611_1616del6

1 paper

NM_000222.3

p.C537S

c.1609T>A

1 paper

NM_000222.3

p.I538V

c.1612A>G

1 paper

NM_000222.3

p.M536I

c.1608G>A

1 paper

NM_000222.3

p.M536I

c.1608G>C

1 paper

NM_000222.3

p.M536I

c.1608G>T

1 paper

NM_000222.3

p.M536K

c.1607T>A

1 paper

NM_000222.3

p.M536T

c.1607T>C

3 papers

NM_000222.3

p.M536L

c.1606A>C

3 papers

NM_000222.3

p.M536L

c.1606A>T

1 paper

NM_000222.3

p.I539V

c.1615A>G

4 papers

NM_000222.3

p.M535I

c.1605G>A