Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R246Q

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.R246Q
c.737G>A
Surrounding Variants
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
13 papers
NM_032409.3
p.A244G
c.731C>G
1 paper
NM_032409.3
p.A248G
c.743C>G
1 paper
NM_032409.3
p.A244V
c.731C>T
1 paper
NM_032409.3
p.A244T
c.730G>A
6 papers
NM_032409.3
p.L249V
c.745T>G
1 paper
NM_032409.3
p.V242insFs
c.724_725ins4
1 paper
NM_032409.3
p.L241L
c.721C>T
1 paper
NM_032409.3
p.E252K
c.754G>A
2 papers
NM_032409.3
p.E252V
c.755A>T
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