Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A89_W90ins8

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.A89_W90ins8
c.265_269ins24
Surrounding Variants
1 paper
NM_032409.3
p.A89T
c.265G>A
1 paper
NM_032409.3
p.A89S
c.265G>T
1 paper
NM_032409.3
p.A89D
c.266C>A
2 papers
NM_032409.3
p.R88W
c.262C>T
2 papers
NM_032409.3
p.W90fs
c.268_269fs
4 papers
NM_032409.3
p.W90*
c.269G>A
1 paper
NM_032409.3
p.W90L
c.269G>T
6 papers
NM_032409.3
p.W90*
c.270G>A
3 papers
NM_032409.3
p.V87_C92delFs
c.261_276del16
1 paper
NM_032409.3
p.G91D
c.272G>A
2 papers
NM_032409.3
p.G91delFs
c.273delC
3 papers
NM_032409.3
p.V86E
c.257T>A
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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."