Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D297H

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
2 papers
NM_032409.3
p.D297H
c.889G>C
Surrounding Variants
1 paper
NM_032409.3
p.D297fs
c.889_890fs
2 papers
NM_032409.3
p.D297fs
c.889_890fs
1 paper
NM_032409.3
p.P296P
c.888T>G
7 papers
NM_032409.3
p.D297delFs
c.889delG
10 papers
NM_032409.3
p.P296L
c.887C>T
1 paper
NM_032409.3
p.V298M
c.892G>A
1 paper
NM_032409.3
p.Y295*
c.885C>A
1 paper
NM_032409.3
p.V298G
c.893T>G
1 paper
NM_032409.3
p.P300S
c.898C>T
2 papers
NM_032409.3
p.D294N
c.880G>A
3 papers
NM_032409.3
p.V293V
c.879C>A
1 paper
NM_032409.3
p.V293D
c.878T>A
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