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.L793F

c.2379G>C

Surrounding Variants

1 paper

NM_000222.3

p.L793F

c.2379G>T

4 papers

NM_000222.3

p.A794T

c.2380G>A

1 paper

NM_000222.3

p.A794S

c.2380G>T

2 papers

NM_000222.3

p.L793S

c.2378T>C

1 paper

NM_000222.3

p.L793W

c.2378T>G

1 paper

NM_000222.3

p.A794E

c.2381C>A

1 paper

NM_000222.3

p.L793M

c.2377T>A

3 papers

NM_000222.3

p.D792E

c.2376C>A

3 papers

NM_000222.3

p.D792E

c.2376C>G

1 paper

NM_000222.3

p.A795T

c.2383G>A

1 paper

NM_000222.3

p.A795P

c.2383G>C

1 paper

NM_000222.3

p.D792N

c.2374G>A