Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A75delFs

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.A75delFs
c.225delC
Surrounding Variants
1 paper
NM_032409.3
p.V74E
c.221T>A
1 paper
NM_032409.3
p.V74insFs
c.222dupG
1 paper
NM_032409.3
p.V74M
c.220G>A
1 paper
NM_032409.3
p.G76R
c.226G>A
1 paper
NM_032409.3
p.G76R
c.226G>C
3 papers
NM_032409.3
p.G76V
c.227G>T
7 papers
NM_032409.3
p.S73L
c.218C>T
1 paper
NM_032409.3
p.L77V
c.229C>G
1 paper
NM_032409.3
p.S73T
c.217T>A
3 papers
NM_032409.3
p.L77P
c.230T>C
1 paper
NM_032409.3
p.L77R
c.230T>G
6 papers
NM_032409.3
p.A78V
c.233C>T
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."