Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D362A

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
40 papers
NM_032409.3
p.D362A
c.1085A>C
Surrounding Variants
2 papers
NM_032409.3
p.D362N
c.1084G>A
5 papers
NM_032409.3
p.D362H
c.1084G>C
2 papers
NM_032409.3
p.D362Y
c.1084G>T
1 paper
NM_032409.3
p.R361S
c.1083A>C
1 paper
NM_032409.3
p.R361S
c.1083A>T
2 papers
NM_032409.3
p.H360R
c.1079A>G
1 paper
NM_032409.3
p.H360L
c.1079A>T
1 paper
NM_032409.3
p.A359V
c.1076C>T
2 papers
NM_032409.3
p.S365S
c.1095C>T
4 papers
NM_032409.3
p.A359T
c.1075G>A
2 papers
NM_032409.3
p.D366N
c.1096G>A
1 paper
NM_032409.3
p.D366_N367del1
c.1097_1099delACA
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."