Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G53G

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.G53G
c.159C>G
Surrounding Variants
2 papers
NM_032409.3
p.G53D
c.158G>A
1 paper
NM_032409.3
p.A54E
c.161C>A
1 paper
NM_032409.3
p.G53S
c.157G>A
1 paper
NM_032409.3
p.P52P
c.156G>C
7 papers
NM_032409.3
p.P52L
c.155C>T
1 paper
NM_032409.3
p.E55*
c.163G>T
1 paper
NM_032409.3
p.P52S
c.154C>T
1 paper
NM_032409.3
p.P56T
c.166C>A
1 paper
NM_032409.3
p.P56S
c.166C>T
3 papers
NM_032409.3
p.P56_G62ins2
c.168_185dup18
1 paper
NM_032409.3
p.P56_G62del0
c.168_185del18
1 paper
NM_032409.3
p.R57insFs
c.169_170dupCG
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