Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G448R

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
5 papers
NM_032409.3
p.G448R
c.1342G>C
Surrounding Variants
5 papers
NM_032409.3
p.G448R
c.1342G>A
1 paper
NM_032409.3
p.G448E
c.1343G>A
2 papers
NM_032409.3
p.L449delFs
c.1345delC
1 paper
NM_032409.3
p.I446V
c.1336A>G
1 paper
NM_032409.3
p.E445K
c.1333G>A
1 paper
NM_032409.3
p.N451T
c.1352A>C
13 papers
NM_032409.3
p.N451S
c.1352A>G
1 paper
NM_032409.3
p.Y444C
c.1331A>G
1 paper
NM_032409.3
p.N451N
c.1353T>C
1 paper
NM_032409.3
p.Y444fs
c.1330_1331fs
2 papers
NM_032409.3
p.A443delFs
c.1329delC
9 papers
NM_032409.3
p.I442T
c.1325T>C
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