Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L316P

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.L316P
c.947T>C
Surrounding Variants
2 papers
NM_032409.3
p.L316F
c.946C>T
2 papers
NM_032409.3
p.L316L
c.948C>T
1 paper
NM_032409.3
p.F315L
c.945C>A
1 paper
NM_032409.3
p.F315L
c.945C>G
13 papers
NM_032409.3
p.V317I
c.949G>A
1 paper
NM_032409.3
p.F315L
c.943T>C
21 papers
NM_032409.3
p.M318L
c.952A>C
23 papers
NM_032409.3
p.M318L
c.952A>T
1 paper
NM_032409.3
p.M318K
c.953T>A
1 paper
NM_032409.3
p.L314P
c.941T>C
1 paper
NM_032409.3
p.L314V
c.940C>G
46 papers
NM_032409.3
p.T313M
c.938C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."