Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L31L

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
10 papers
NM_032409.3
p.L31L
c.93G>A
Surrounding Variants
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
5 papers
NM_032409.3
p.L31*
c.92T>A
1 paper
NM_032409.3
p.G32Fs
c.94_95delinsGCGCFs
1 paper
NM_032409.3
p.G32delins
c.95delinsGCGC
2 papers
NM_032409.3
p.G30D
c.89G>A
1 paper
NM_032409.3
p.G30insFs
c.89_90ins8
1 paper
NM_032409.3
p.G30V
c.89G>T
21 papers
NM_032409.3
p.R33Q
c.98G>A
1 paper
NM_032409.3
p.G30S
c.88G>A
8 papers
NM_032409.3
p.G30R
c.88G>C
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