Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q12_A16del5

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.Q12_A16del5
c.34_47del15
Surrounding Variants
1 paper
NM_032409.3
p.L11M
c.31C>A
1 paper
NM_032409.3
p.Q12*
c.34C>T
1 paper
NM_032409.3
p.Q12L
c.35A>T
1 paper
NM_032409.3
p.G10S
c.28G>A
1 paper
NM_032409.3
p.Q12H
c.36G>C
1 paper
NM_032409.3
p.R9H
c.26G>A
1 paper
NM_032409.3
p.L13Q
c.38T>A
1 paper
NM_032409.3
p.L13R
c.38T>G
1 paper
NM_032409.3
p.G14_T22del9
c.40_65del27
1 paper
NM_032409.3
p.L13L
c.39G>T
3 papers
NM_032409.3
p.G14S
c.40G>A
1 paper
NM_032409.3
p.G8R
c.22G>C
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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."