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.R830L

c.2489G>T

Surrounding Variants

3 papers

NM_000222.3

p.R830Q

c.2489G>A

3 papers

NM_000222.3

p.R830*

c.2488C>T

12 papers

NM_000222.3

p.A829A

c.2487T>A

2 papers

NM_000222.3

p.A829V

c.2486C>T

1 paper

NM_000222.3

p.L831Q

c.2492T>A

2 papers

NM_000222.3

p.L831P

c.2492T>C

4 papers

NM_000222.3

p.A829T

c.2485G>A

136 papers

NM_000222.3

p.A829P

c.2485G>C

1 paper

NM_000222.3

p.P832T

c.2494C>A

1 paper

NM_000222.3

p.P832A

c.2494C>G

5 papers

NM_000222.3

p.P832S

c.2494C>T

2 papers

NM_000222.3

p.N828_A829Splc

c.2485-1G>A