Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A116A

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.A116A
c.348G>C
Surrounding Variants
1 paper
NM_032409.3
p.A116A
c.348G>T
1 paper
NM_032409.3
p.E117K
c.349G>A
1 paper
NM_032409.3
p.E117Q
c.349G>C
1 paper
NM_032409.3
p.E117A
c.350A>C
2 papers
NM_032409.3
p.Q115Q
c.345G>A
1 paper
NM_032409.3
p.E117E
c.351G>A
2 papers
NM_032409.3
p.S118R
c.352A>C
1 paper
NM_032409.3
p.Q115P
c.344A>C
29 papers
NM_032409.3
p.Q115L
c.344A>T
1 paper
NM_032409.3
p.Q115K
c.343C>A
2 papers
NM_032409.3
p.Q115fs
c.343_344fs
2 papers
NM_032409.3
p.S118R
c.354C>A
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