Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E240K

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
39 papers
NM_032409.3
p.E240K
c.718G>A
Surrounding Variants
1 paper
NM_032409.3
p.E240V
c.719A>T
1 paper
NM_032409.3
p.Q239R
c.716A>G
15 papers
NM_032409.3
p.Q239*
c.715C>T
1 paper
NM_032409.3
p.L241L
c.721C>T
1 paper
NM_032409.3
p.S238R
c.714C>G
1 paper
NM_032409.3
p.V242insFs
c.724_725ins4
1 paper
NM_032409.3
p.M237R
c.710T>G
6 papers
NM_032409.3
p.M237V
c.709A>G
1 paper
NM_032409.3
p.T236T
c.708A>C
1 paper
NM_032409.3
p.T236A
c.706A>G
1 paper
NM_032409.3
p.A244T
c.730G>A
1 paper
NM_032409.3
p.N235K
c.705C>A
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