Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L308delFs

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.L308delFs
c.922delC
Surrounding Variants
1 paper
NM_032409.3
p.L308fs
c.922_923fs
1 paper
NM_032409.3
p.L308Q
c.923T>A
1 paper
NM_032409.3
p.G309S
c.925G>A
4 papers
NM_032409.3
p.P305L
c.914C>T
190 papers
NM_032409.3
p.G309D
c.926G>A
8 papers
NM_032409.3
p.P305A
c.913C>G
1 paper
NM_032409.3
p.H310R
c.929A>G
1 paper
NM_032409.3
p.R312W
c.934C>T
2 papers
NM_032409.3
p.R312Q
c.935G>A
1 paper
NM_032409.3
p.R302H
c.905G>A
2 papers
NM_032409.3
p.R312R
c.936G>A
1 paper
NM_032409.3
p.R312R
c.936G>T
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