Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P142A

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.P142A
c.424C>G
Surrounding Variants
2 papers
NM_032409.3
p.P142L
c.425C>T
1 paper
NM_032409.3
p.D141G
c.422A>G
1 paper
NM_032409.3
p.L143*
c.428T>A
1 paper
NM_032409.3
p.G139A
c.416G>C
1 paper
NM_032409.3
p.G139R
c.415G>A
3 papers
NM_032409.3
p.G139R
c.415G>C
10 papers
NM_032409.3
p.T145M
c.434C>T
2 papers
NM_032409.3
p.P138L
c.413C>T
1 paper
NM_032409.3
p.P138fs
c.412_413fs
5 papers
NM_032409.3
p.K137K
c.411G>A
3 papers
NM_032409.3
p.K137N
c.411G>C
1 paper
NM_032409.3
p.K137N
c.411G>T
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