Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Y29_P36delFs

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.Y29_P36delFs
c.85_106del22
Surrounding Variants
1 paper
NM_032409.3
p.P25H
c.74C>A
1 paper
NM_032409.3
p.R27_A38delFs
c.79_113del35
1 paper
NM_032409.3
p.G26S
c.76G>A
1 paper
NM_032409.3
p.K24R
c.71A>G
1 paper
NM_032409.3
p.G26_R27insFs
c.78_79insG
1 paper
NM_032409.3
p.G23G
c.69C>T
1 paper
NM_032409.3
p.R27fs
c.79_80fs
1 paper
NM_032409.3
p.K24_P34delFs
c.70_101del32
4 papers
NM_032409.3
p.G23S
c.67G>A
2 papers
NM_032409.3
p.A28T
c.82G>A
1 paper
NM_032409.3
p.A28_Y29insFs
c.84_85insGC
5 papers
NM_032409.3
p.T22M
c.65C>T
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