Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V482M

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
4 papers
NM_032409.3
p.V482M
c.1444G>A
Surrounding Variants
1 paper
NM_032409.3
p.V482L
c.1444G>C
1 paper
NM_032409.3
p.R483insFs
c.1448_1449ins20
1 paper
NM_032409.3
p.V482L
c.1444G>T
1 paper
NM_032409.3
p.D481E
c.1443C>A
1 paper
NM_032409.3
p.D481E
c.1443C>G
1 paper
NM_032409.3
p.D481V
c.1442A>T
2 papers
NM_032409.3
p.R483fs
c.1447_1448fs
1 paper
NM_032409.3
p.V486_K496del0
c.1456_1488del33
1 paper
NM_032409.3
p.V478M
c.1432G>A
1 paper
NM_032409.3
p.S477T
c.1429T>A
1 paper
NM_032409.3
p.E476D
c.1428G>C
1 paper
NM_032409.3
p.R487T
c.1460G>C
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