Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L314P

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.L314P
c.941T>C
Surrounding Variants
1 paper
NM_032409.3
p.L314V
c.940C>G
1 paper
NM_032409.3
p.F315L
c.943T>C
46 papers
NM_032409.3
p.T313M
c.938C>T
1 paper
NM_032409.3
p.T313fs
c.937_938fs
2 papers
NM_032409.3
p.T313A
c.937A>G
1 paper
NM_032409.3
p.F315L
c.945C>A
1 paper
NM_032409.3
p.F315L
c.945C>G
2 papers
NM_032409.3
p.L316F
c.946C>T
2 papers
NM_032409.3
p.R312R
c.936G>A
1 paper
NM_032409.3
p.R312R
c.936G>T
2 papers
NM_032409.3
p.R312Q
c.935G>A
1 paper
NM_032409.3
p.L316P
c.947T>C
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