Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G408A

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.G408A
c.1223G>C
Surrounding Variants
1 paper
NM_032409.3
p.G408R
c.1222G>C
1 paper
NM_032409.3
p.G408fs
c.1222_1223fs
6 papers
NM_032409.3
p.G409R
c.1225G>A
5 papers
NM_032409.3
p.G409R
c.1225G>C
2 papers
NM_032409.3
p.G409*
c.1225G>T
16 papers
NM_032409.3
p.R407Q
c.1220G>A
1 paper
NM_032409.3
p.G409A
c.1226G>C
31 papers
NM_032409.3
p.G409V
c.1226G>T
1 paper
NM_032409.3
p.R407L
c.1220G>T
1 paper
NM_032409.3
p.R407W
c.1219C>T
2 papers
NM_032409.3
p.G408delFs
c.1223delG
1 paper
NM_032409.3
p.D406A
c.1217A>C
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