Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.K164Q

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.K164Q
c.490A>C
Surrounding Variants
1 paper
NM_032409.3
p.G163S
c.487G>A
1 paper
NM_032409.3
p.G163fs
c.487_488fs
1 paper
NM_032409.3
p.G165D
c.494G>A
1 paper
NM_032409.3
p.G163delFs
c.488delG
1 paper
NM_032409.3
p.I162V
c.484A>G
1 paper
NM_032409.3
p.C166S
c.496T>A
3 papers
NM_032409.3
p.C166R
c.496T>C
2 papers
NM_032409.3
p.C166Y
c.497G>A
1 paper
NM_032409.3
p.C166S
c.497G>C
1 paper
NM_032409.3
p.S167del1
c.499_501delAGT
2 papers
NM_032409.3
p.S167C
c.499A>T
1 paper
NM_032409.3
p.S161T
c.481T>A
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