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

4 papers

NM_000222.3

p.T74M

c.221C>T

Surrounding Variants

2 papers

NM_000222.3

p.T74R

c.221C>G

1 paper

NM_000222.3

p.T74A

c.220A>G

1 paper

NM_000222.3

p.E73E

c.219A>G

1 paper

NM_000222.3

p.N75D

c.223A>G

2 papers

NM_000222.3

p.E73D

c.219A>T

1 paper

NM_000222.3

p.E73A

c.218A>C

2 papers

NM_000222.3

p.E73G

c.218A>G

6 papers

NM_000222.3

p.E73K

c.217G>A

6 papers

NM_000222.3

p.E76K

c.226G>A

3 papers

NM_000222.3

p.E76Q

c.226G>C

1 paper

NM_000222.3

p.E76_Q79delFs

c.227_236del10

1 paper

NM_000222.3

p.D72E

c.216T>A