Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q180*

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.Q180*
c.538C>T
Surrounding Variants
2 papers
NM_032409.3
p.P179P
c.537C>T
1 paper
NM_032409.3
p.T177I
c.530C>T
1 paper
NM_032409.3
p.L182L
c.546G>A
2 papers
NM_032409.3
p.E183delFs
c.548_549delAG
1 paper
NM_032409.3
p.E183fs
c.547_548fs
1 paper
NM_032409.3
p.E183fs
c.547_548fs
1 paper
NM_032409.3
p.P176insFs
c.527_528ins4
1 paper
NM_032409.3
p.T185S
c.553A>T
1 paper
NM_032409.3
p.T174T
c.522C>T
1 paper
NM_032409.3
p.T174I
c.521C>T
1 paper
NM_032409.3
p.K186E
c.556A>G
1 paper
NM_032409.3
p.K186*
c.556A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."