Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q129*

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
8 papers
NM_032409.3
p.Q129*
c.385C>T
Surrounding Variants
1 paper
NM_032409.3
p.Q129fs
c.385_386fs
1 paper
NM_032409.3
p.I128I
c.384C>A
3 papers
NM_032409.3
p.I128F
c.382A>T
1 paper
NM_032409.3
p.Q129_A130Splc
c.387+1G>A
1 paper
NM_032409.3
p.Q129_A130Splc
c.387+1G>C
1 paper
NM_032409.3
p.Q129_A130Splc
c.387+1G>T
1 paper
NM_032409.3
p.Q126H
c.378G>C
1 paper
NM_032409.3
p.Q126H
c.378G>T
30 papers
NM_032409.3
p.Q126P
c.377A>C
2 papers
NM_032409.3
p.Q126R
c.377A>G
4 papers
NM_032409.3
p.Q126*
c.376C>T
1 paper
NM_032409.3
p.C125S
c.374G>C
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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."