Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L19_R20insFs

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.L19_R20insFs
c.57_58insGC
Surrounding Variants
4 papers
NM_032409.3
p.L19L
c.57G>A
1 paper
NM_032409.3
p.L19_R20insFs
c.57_58insGT
1 paper
NM_032409.3
p.R20G
c.58C>G
1 paper
NM_032409.3
p.L19Q
c.56T>A
1 paper
NM_032409.3
p.L19Fs
c.56_57delinsAFs
1 paper
NM_032409.3
p.F21S
c.62T>C
1 paper
NM_032409.3
p.L17L
c.51G>T
1 paper
NM_032409.3
p.T22S
c.64A>T
1 paper
NM_032409.3
p.L17Q
c.50T>A
5 papers
NM_032409.3
p.T22M
c.65C>T
1 paper
NM_032409.3
p.A16A
c.48G>A
1 paper
NM_032409.3
p.A16V
c.47C>T
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