Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G193R

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
6 papers
NM_032409.3
p.G193R
c.577G>C
Surrounding Variants
6 papers
NM_032409.3
p.G193R
c.577G>A
2 papers
NM_032409.3
p.G193E
c.578G>A
1 paper
NM_032409.3
p.G193A
c.578G>C
1 paper
NM_032409.3
p.G195R
c.583G>C
2 papers
NM_032409.3
p.P196delFs
c.587delC
4 papers
NM_032409.3
p.G195G
c.585C>T
1 paper
NM_032409.3
p.P196fs
c.586_587fs
5 papers
NM_032409.3
p.P196S
c.586C>T
19 papers
NM_032409.3
p.P196L
c.587C>T
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.T188T
c.564C>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."