Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R422insFs

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.R422insFs
c.1264dupC
Surrounding Variants
1 paper
NM_032409.3
p.A421T
c.1261G>A
1 paper
NM_032409.3
p.T420T
c.1260G>A
1 paper
NM_032409.3
p.T420M
c.1259C>T
2 papers
NM_032409.3
p.R422C
c.1264C>T
1 paper
NM_032409.3
p.R422fs
c.1264_1265fs
1 paper
NM_032409.3
p.R422H
c.1265G>A
2 papers
NM_032409.3
p.S419F
c.1256C>T
10 papers
NM_032409.3
p.S419P
c.1255T>C
1 paper
NM_032409.3
p.P423L
c.1268C>T
1 paper
NM_032409.3
p.V418A
c.1253T>C
1 paper
NM_032409.3
p.V418G
c.1253T>G
2 papers
NM_032409.3
p.V418M
c.1252G>A
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