Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q534_S535ins1

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
9 papers
NM_032409.3
p.Q534_S535ins1
c.1602_1603insCAA
Surrounding Variants
2 papers
NM_032409.3
p.Q533fs
c.1597_1598fs
1 paper
NM_032409.3
p.Q533insFs
c.1597dupC
1 paper
NM_032409.3
p.L532fs
c.1594_1595fs
1 paper
NM_032409.3
p.Q534K
c.1600C>A
8 papers
NM_032409.3
p.Q534_S535insQ
c.1600_1604ins3
1 paper
NM_032409.3
p.L531_A536delFs
c.1593_1606del14
1 paper
NM_032409.3
p.L531F
c.1591C>T
2 papers
NM_032409.3
p.S535L
c.1604C>T
1 paper
NM_032409.3
p.W530R
c.1588T>A
1 paper
NM_032409.3
p.W530R
c.1588T>C
1 paper
NM_032409.3
p.G529A
c.1586G>C
1 paper
NM_032409.3
p.A536S
c.1606G>T
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