Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A16V

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.A16V
c.47C>T
Surrounding Variants
1 paper
NM_032409.3
p.A16A
c.48G>A
4 papers
NM_032409.3
p.R15Q
c.44G>A
1 paper
NM_032409.3
p.R15L
c.44G>T
1 paper
NM_032409.3
p.L17Q
c.50T>A
2 papers
NM_032409.3
p.R15*
c.43C>T
1 paper
NM_032409.3
p.L17L
c.51G>T
3 papers
NM_032409.3
p.G14S
c.40G>A
1 paper
NM_032409.3
p.L13L
c.39G>T
1 paper
NM_032409.3
p.L13Q
c.38T>A
1 paper
NM_032409.3
p.L19Q
c.56T>A
1 paper
NM_032409.3
p.L13R
c.38T>G
1 paper
NM_032409.3
p.L19Fs
c.56_57delinsAFs
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