Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L539V

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.L539V
c.1615T>G
Surrounding Variants
10 papers
NM_032409.3
p.L539F
c.1617G>C
9 papers
NM_032409.3
p.L539F
c.1617G>T
1 paper
NM_032409.3
p.T538P
c.1612A>C
9 papers
NM_032409.3
p.A537T
c.1609G>A
3 papers
NM_032409.3
p.A537P
c.1609G>C
1 paper
NM_032409.3
p.A541S
c.1621G>T
1 paper
NM_032409.3
p.A536S
c.1606G>T
7 papers
NM_032409.3
p.N542S
c.1625A>G
2 papers
NM_032409.3
p.S535L
c.1604C>T
1 paper
NM_032409.3
p.R543G
c.1627A>G
1 paper
NM_032409.3
p.R543W
c.1627A>T
1 paper
NM_032409.3
p.Q534K
c.1600C>A
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