Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.M527R

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
1 paper
NM_032409.3
p.M527R
c.1580T>G
Surrounding Variants
1 paper
NM_032409.3
p.M527T
c.1580T>C
1 paper
NM_032409.3
p.V528A
c.1583T>C
1 paper
NM_032409.3
p.G529A
c.1586G>C
23 papers
NM_032409.3
p.D525N
c.1573G>A
3 papers
NM_032409.3
p.D525fs
c.1573_1574fs
1 paper
NM_032409.3
p.D525fs
c.1573_1574fs
1 paper
NM_032409.3
p.W530R
c.1588T>A
1 paper
NM_032409.3
p.W530R
c.1588T>C
1 paper
NM_032409.3
p.L524fs
c.1570_1571fs
1 paper
NM_032409.3
p.L531F
c.1591C>T
1 paper
NM_032409.3
p.L531_A536delFs
c.1593_1606del14
10 papers
NM_032409.3
p.D525insFs
c.1573_1574ins4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."