Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V59fs

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.V59fs
c.175_176fs
Surrounding Variants
1 paper
NM_032409.3
p.G62_L63ins0
c.184_189dup6
1 paper
NM_032409.3
p.R58K
c.173G>A
1 paper
NM_032409.3
p.R58T
c.173G>C
3 papers
NM_032409.3
p.G60R
c.178G>A
3 papers
NM_032409.3
p.G60R
c.178G>C
1 paper
NM_032409.3
p.L61delFs
c.181delC
1 paper
NM_032409.3
p.R57S
c.169C>A
3 papers
NM_032409.3
p.R57ins2
c.169_170ins6
1 paper
NM_032409.3
p.L61V
c.181C>G
1 paper
NM_032409.3
p.R57C
c.169C>T
1 paper
NM_032409.3
p.R57insFs
c.169_170dupCG
3 papers
NM_032409.3
p.P56_G62ins2
c.168_185dup18
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