Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.T188T

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.T188T
c.564C>T
Surrounding Variants
5 papers
NM_032409.3
p.G189R
c.565G>A
5 papers
NM_032409.3
p.G189R
c.565G>C
1 paper
NM_032409.3
p.S187T
c.560G>C
1 paper
NM_032409.3
p.S187G
c.559A>G
13 papers
NM_032409.3
p.K186N
c.558G>C
12 papers
NM_032409.3
p.K186N
c.558G>T
1 paper
NM_032409.3
p.K186R
c.557A>G
1 paper
NM_032409.3
p.K186E
c.556A>G
1 paper
NM_032409.3
p.K186*
c.556A>T
1 paper
NM_032409.3
p.T185S
c.553A>T
6 papers
NM_032409.3
p.G193R
c.577G>A
6 papers
NM_032409.3
p.G193R
c.577G>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."