Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V405A

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.V405A
c.1214T>C
Surrounding Variants
3 papers
NM_032409.3
p.Y404*
c.1212C>A
3 papers
NM_032409.3
p.Y404*
c.1212C>G
3 papers
NM_032409.3
p.Y404Y
c.1212C>T
1 paper
NM_032409.3
p.D406A
c.1217A>C
1 paper
NM_032409.3
p.Y404H
c.1210T>C
1 paper
NM_032409.3
p.R407W
c.1219C>T
2 papers
NM_032409.3
p.G408delFs
c.1223delG
3 papers
NM_032409.3
p.W403*
c.1209G>A
16 papers
NM_032409.3
p.R407Q
c.1220G>A
4 papers
NM_032409.3
p.W403*
c.1208G>A
1 paper
NM_032409.3
p.R407L
c.1220G>T
1 paper
NM_032409.3
p.G408R
c.1222G>C
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."