Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G440E

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
12 papers
NM_032409.3
p.G440E
c.1319G>A
Surrounding Variants
9 papers
NM_032409.3
p.I442T
c.1325T>C
93 papers
NM_032409.3
p.W437*
c.1311G>A
1 paper
NM_032409.3
p.W437C
c.1311G>C
1 paper
NM_032409.3
p.W437C
c.1311G>T
2 papers
NM_032409.3
p.A443delFs
c.1329delC
91 papers
NM_032409.3
p.W437*
c.1310G>A
8 papers
NM_032409.3
p.W437R
c.1309T>A
9 papers
NM_032409.3
p.W437R
c.1309T>C
3 papers
NM_032409.3
p.W437G
c.1309T>G
1 paper
NM_032409.3
p.Y444fs
c.1330_1331fs
1 paper
NM_032409.3
p.Y444C
c.1331A>G
1 paper
NM_032409.3
p.E445K
c.1333G>A
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."