Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A248G

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.A248G
c.743C>G
Surrounding Variants
6 papers
NM_032409.3
p.L249V
c.745T>G
6 papers
NM_032409.3
p.R246Q
c.737G>A
1 paper
NM_032409.3
p.R246P
c.737G>C
31 papers
NM_032409.3
p.R246*
c.736C>T
1 paper
NM_032409.3
p.S245N
c.734G>A
1 paper
NM_032409.3
p.E252K
c.754G>A
2 papers
NM_032409.3
p.E252V
c.755A>T
13 papers
NM_032409.3
p.A244G
c.731C>G
1 paper
NM_032409.3
p.A244V
c.731C>T
1 paper
NM_032409.3
p.A244T
c.730G>A
1 paper
NM_032409.3
p.E252D
c.756G>C
1 paper
NM_032409.3
p.E252D
c.756G>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."