Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A93V

PINK1

1,360 papers

RefSeq Summary

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form ...

Pfam Domains

Pkinaseaa 264–509UCSCProtein kinase domain

Gene Aliases

HGNC Name

PTEN induced kinase 1

HGNC Previous Symbol

PARK6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032409.3
p.A93V
c.278C>T
Surrounding Variants
2 papers
NM_032409.3
p.A93P
c.277G>C
1 paper
NM_032409.3
p.C92S
c.275G>C
1 paper
NM_032409.3
p.P95insFs
c.283dupC
23 papers
NM_032409.3
p.C92F
c.275G>T
4 papers
NM_032409.3
p.G94G
c.282C>T
1 paper
NM_032409.3
p.C92fs
c.274_275fs
3 papers
NM_032409.3
p.P95A
c.283C>G
1 paper
NM_032409.3
p.P95R
c.284C>G
1 paper
NM_032409.3
p.G91D
c.272G>A
2 papers
NM_032409.3
p.G91delFs
c.273delC
6 papers
NM_032409.3
p.W90*
c.270G>A
2 papers
NM_032409.3
p.C96S
c.286T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."