Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G411S

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
67 papers
NM_032409.3
p.G411S
c.1231G>A
Surrounding Variants
1 paper
NM_032409.3
p.G411R
c.1231G>C
2 papers
NM_032409.3
p.G411C
c.1231G>T
3 papers
NM_032409.3
p.N410N
c.1230C>T
5 papers
NM_032409.3
p.G411A
c.1232G>C
1 paper
NM_032409.3
p.C412insFs
c.1235_1236insA
1 paper
NM_032409.3
p.G409A
c.1226G>C
31 papers
NM_032409.3
p.G409V
c.1226G>T
1 paper
NM_032409.3
p.C412*
c.1236T>A
1 paper
NM_032409.3
p.L413L
c.1237C>T
6 papers
NM_032409.3
p.G409R
c.1225G>A
5 papers
NM_032409.3
p.G409R
c.1225G>C
2 papers
NM_032409.3
p.G409*
c.1225G>T
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