Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G39A

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.G39A
c.116G>C
Surrounding Variants
1 paper
NM_032409.3
p.G39D
c.116G>A
1 paper
NM_032409.3
p.G39V
c.116G>T
1 paper
NM_032409.3
p.G39R
c.115G>C
1 paper
NM_032409.3
p.A38V
c.113C>T
1 paper
NM_032409.3
p.A38_G39Fs
c.113_115delinsTTFs
1 paper
NM_032409.3
p.A38T
c.112G>A
1 paper
NM_032409.3
p.C40_V41insFs
c.120_121insA
1 paper
NM_032409.3
p.A37A
c.111G>A
1 paper
NM_032409.3
p.A37_A38ins1
c.111_112insTTC
2 papers
NM_032409.3
p.A37V
c.110C>T
3 papers
NM_032409.3
p.R42C
c.124C>T
1 paper
NM_032409.3
p.P36P
c.108G>A
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