Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G210A

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.G210A
c.629G>C
Surrounding Variants
1 paper
NM_032409.3
p.G210E
c.629G>A
1 paper
NM_032409.3
p.G210R
c.628G>A
3 papers
NM_032409.3
p.A211T
c.631G>A
1 paper
NM_032409.3
p.P212delFs
c.635delC
1 paper
NM_032409.3
p.A211fs
c.631_632fs
1 paper
NM_032409.3
p.A211G
c.632C>G
12 papers
NM_032409.3
p.P209L
c.626C>T
4 papers
NM_032409.3
p.A211V
c.632C>T
1 paper
NM_032409.3
p.A211delFs
c.631delG
7 papers
NM_032409.3
p.P209A
c.625C>G
2 papers
NM_032409.3
p.P212S
c.634C>T
1 paper
NM_032409.3
p.P212fs
c.634_635fs
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