Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G424R

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.G424R
c.1270G>C
Surrounding Variants
1 paper
NM_032409.3
p.G424C
c.1270G>T
1 paper
NM_032409.3
p.P423L
c.1268C>T
10 papers
NM_032409.3
p.P425S
c.1273C>T
1 paper
NM_032409.3
p.R422H
c.1265G>A
2 papers
NM_032409.3
p.R422C
c.1264C>T
1 paper
NM_032409.3
p.R422fs
c.1264_1265fs
1 paper
NM_032409.3
p.A421T
c.1261G>A
1 paper
NM_032409.3
p.A427T
c.1279G>A
1 paper
NM_032409.3
p.R422insFs
c.1264dupC
6 papers
NM_032409.3
p.A427E
c.1280C>A
1 paper
NM_032409.3
p.A427G
c.1280C>G
1 paper
NM_032409.3
p.T420T
c.1260G>A
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