Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G32delins

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.G32delins
c.95delinsGCGC
Surrounding Variants
1 paper
NM_032409.3
p.G32Fs
c.94_95delinsGCGCFs
8 papers
NM_032409.3
p.G32R
c.94G>A
7 papers
NM_032409.3
p.G32R
c.94G>C
1 paper
NM_032409.3
p.G32W
c.94G>T
10 papers
NM_032409.3
p.L31L
c.93G>A
21 papers
NM_032409.3
p.R33Q
c.98G>A
1 paper
NM_032409.3
p.R33P
c.98G>C
5 papers
NM_032409.3
p.L31*
c.92T>A
1 paper
NM_032409.3
p.P34S
c.100C>T
1 paper
NM_032409.3
p.P34delFs
c.101_102delCG
2 papers
NM_032409.3
p.P34R
c.101C>G
4 papers
NM_032409.3
p.P34L
c.101C>T
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