Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.K266R

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.K266R
c.797A>G
Surrounding Variants
1 paper
NM_032409.3
p.K266N
c.798G>C
1 paper
NM_032409.3
p.K266_Q267insFs
c.798_799insA
1 paper
NM_032409.3
p.K266N
c.798G>T
4 papers
NM_032409.3
p.Q267*
c.799C>T
1 paper
NM_032409.3
p.P265R
c.794C>G
10 papers
NM_032409.3
p.L268V
c.802C>G
4 papers
NM_032409.3
p.L268L
c.804A>G
1 paper
NM_032409.3
p.G264R
c.790G>C
4 papers
NM_032409.3
p.R263G
c.787A>G
1 paper
NM_032409.3
p.P270L
c.809C>T
1 paper
NM_032409.3
p.H271P
c.812A>C
38 papers
NM_032409.3
p.H271Q
c.813C>A
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