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.L57F

c.171A>C

Surrounding Variants

1 paper

NM_000222.3

p.L57F

c.171A>T

1 paper

NM_000222.3

p.L57*

c.170T>A

3 papers

NM_000222.3

p.L57S

c.170T>C

2 papers

NM_000222.3

p.C58R

c.172T>C

4 papers

NM_000222.3

p.C58G

c.172T>G

1 paper

NM_000222.3

p.L57*

c.170T>G

1 paper

NM_000222.3

p.C58Y

c.173G>A

2 papers

NM_000222.3

p.C58F

c.173G>T

1 paper

NM_000222.3

p.T59fs

c.175_176fs

2 papers

NM_000222.3

p.T59A

c.175A>G

1 paper

NM_000222.3

p.T59S

c.175A>T

1 paper

NM_000222.3

p.L56Q

c.167T>A