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.N314T

c.941A>C

Surrounding Variants

1 paper

NM_000222.3

p.N314S

c.941A>G

1 paper

NM_000222.3

p.N314I

c.941A>T

1 paper

NM_000222.3

p.I315_M318del4

c.943_953del12

3 papers

NM_000222.3

p.I315V

c.943A>G

1 paper

NM_000222.3

p.I313_N314ins1

c.939_940insAAG

1 paper

NM_000222.3

p.N314delFs

c.940delA

1 paper

NM_000222.3

p.I315N

c.944T>A

1 paper

NM_000222.3

p.I315T

c.944T>C

1 paper

NM_000222.3

p.I313_N314ins1

c.939_940insTCT

1 paper

NM_000222.3

p.I313ins1

c.938_939insTCT

1 paper

NM_000222.3

p.I313V

c.937A>G

1 paper

NM_000222.3

p.I315M

c.945C>G