Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R276Q

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
9 papers
NM_032409.3
p.R276Q
c.827G>A
Surrounding Variants
1 paper
NM_032409.3
p.I275V
c.823A>G
4 papers
NM_032409.3
p.L278V
c.832C>G
3 papers
NM_032409.3
p.N273K
c.819C>A
3 papers
NM_032409.3
p.N273K
c.819C>G
5 papers
NM_032409.3
p.R279C
c.835C>T
4 papers
NM_032409.3
p.N273S
c.818A>G
4 papers
NM_032409.3
p.I275del1
c.823_824delATC
28 papers
NM_032409.3
p.R279H
c.836G>A
1 paper
NM_032409.3
p.R279R
c.837C>T
2 papers
NM_032409.3
p.P272P
c.816C>T
8 papers
NM_032409.3
p.A280T
c.838G>A
1 paper
NM_032409.3
p.P272T
c.814C>A
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