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

2 papers

NM_000222.3

p.H630L

c.1889A>T

Surrounding Variants

1 paper

NM_000222.3

p.H630insFs

c.1889_1890insA

2 papers

NM_000222.3

p.H630fs

c.1888_1889fs

2 papers

NM_000222.3

p.H630D

c.1888C>G

3 papers

NM_000222.3

p.H630Y

c.1888C>T

2 papers

NM_000222.3

p.H630_L637delFs

c.1888_1910del23

1 paper

NM_000222.3

p.A629G

c.1886C>G

2 papers

NM_000222.3

p.A629V

c.1886C>T

1 paper

NM_000222.3

p.A629T

c.1885G>A

3 papers

NM_000222.3

p.L631F

c.1893G>C

3 papers

NM_000222.3

p.L631F

c.1893G>T

6 papers

NM_000222.3

p.T632I

c.1895C>T

6 papers

NM_000222.3

p.S628N

c.1883G>A