Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L234S

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.L234S
c.701T>C
Surrounding Variants
1 paper
NM_032409.3
p.L234F
c.702G>C
1 paper
NM_032409.3
p.L234F
c.702G>T
4 papers
NM_032409.3
p.N235I
c.704A>T
1 paper
NM_032409.3
p.I233N
c.698T>A
1 paper
NM_032409.3
p.N235K
c.705C>A
1 paper
NM_032409.3
p.N235K
c.705C>G
1 paper
NM_032409.3
p.T236A
c.706A>G
1 paper
NM_032409.3
p.A232V
c.695C>T
1 paper
NM_032409.3
p.T236T
c.708A>C
6 papers
NM_032409.3
p.M237V
c.709A>G
12 papers
NM_032409.3
p.E231G
c.692A>G
1 paper
NM_032409.3
p.M237R
c.710T>G
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