Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q356H

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.Q356H
c.1068G>C
Surrounding Variants
1 paper
NM_032409.3
p.Q356H
c.1068G>T
1 paper
NM_032409.3
p.G357D
c.1070G>A
2 papers
NM_032409.3
p.Q355Q
c.1065A>G
4 papers
NM_032409.3
p.A359T
c.1075G>A
1 paper
NM_032409.3
p.V354A
c.1061T>C
1 paper
NM_032409.3
p.A359V
c.1076C>T
2 papers
NM_032409.3
p.H360R
c.1079A>G
1 paper
NM_032409.3
p.H360L
c.1079A>T
1 paper
NM_032409.3
p.H352P
c.1055A>C
1 paper
NM_032409.3
p.R361S
c.1083A>C
1 paper
NM_032409.3
p.R361S
c.1083A>T
2 papers
NM_032409.3
p.D362N
c.1084G>A
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