Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R57ins2

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
3 papers
NM_032409.3
p.R57ins2
c.169_170ins6
Surrounding Variants
1 paper
NM_032409.3
p.R57S
c.169C>A
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
1 paper
NM_032409.3
p.P56_G62del0
c.168_185del18
1 paper
NM_032409.3
p.P56T
c.166C>A
1 paper
NM_032409.3
p.P56S
c.166C>T
1 paper
NM_032409.3
p.R58K
c.173G>A
1 paper
NM_032409.3
p.R58T
c.173G>C
1 paper
NM_032409.3
p.G62_L63ins0
c.184_189dup6
1 paper
NM_032409.3
p.E55*
c.163G>T
1 paper
NM_032409.3
p.V59fs
c.175_176fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."