Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P52S

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.P52S
c.154C>T
Surrounding Variants
7 papers
NM_032409.3
p.P52L
c.155C>T
1 paper
NM_032409.3
p.P52P
c.156G>C
1 paper
NM_032409.3
p.G53S
c.157G>A
2 papers
NM_032409.3
p.G53D
c.158G>A
1 paper
NM_032409.3
p.G53G
c.159C>G
1 paper
NM_032409.3
p.A54E
c.161C>A
1 paper
NM_032409.3
p.A49A
c.147C>T
1 paper
NM_032409.3
p.A49V
c.146C>T
1 paper
NM_032409.3
p.A49T
c.145G>A
1 paper
NM_032409.3
p.E55*
c.163G>T
1 paper
NM_032409.3
p.P56T
c.166C>A
1 paper
NM_032409.3
p.P56S
c.166C>T
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