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.L526L

c.1578G>T

Surrounding Variants

1 paper

NM_000222.3

p.L526L

c.1578G>A

1 paper

NM_000222.3

p.I527V

c.1579A>G

1 paper

NM_000222.3

p.I527F

c.1579A>T

1 paper

NM_000222.3

p.L526M

c.1576C>A

1 paper

NM_000222.3

p.G528S

c.1582G>A

1 paper

NM_000222.3

p.G528D

c.1583G>A

3 papers

NM_000222.3

p.P524L

c.1571C>T

1 paper

NM_000222.3

p.F529insFs

c.1585_1586insC

1 paper

NM_000222.3

p.P524S

c.1570C>T

1 paper

NM_000222.3

p.F529S

c.1586T>C

2 papers

NM_000222.3

p.F529C

c.1586T>G

1 paper

NM_000222.3

p.F529F

c.1587C>T