Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q82*

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.Q82*
c.244C>T
Surrounding Variants
1 paper
NM_032409.3
p.Q82Q
c.246G>A
1 paper
NM_032409.3
p.R83W
c.247C>T
1 paper
NM_032409.3
p.L81insFs
c.241_242insA
1 paper
NM_032409.3
p.Q84*
c.250C>T
1 paper
NM_032409.3
p.A79V
c.236C>T
4 papers
NM_032409.3
p.A79S
c.235G>T
6 papers
NM_032409.3
p.A78V
c.233C>T
3 papers
NM_032409.3
p.V86E
c.257T>A
3 papers
NM_032409.3
p.L77P
c.230T>C
1 paper
NM_032409.3
p.L77R
c.230T>G
1 paper
NM_032409.3
p.L77V
c.229C>G
3 papers
NM_032409.3
p.V87_C92delFs
c.261_276del16
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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."