Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E231K

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.E231K
c.691G>A
Surrounding Variants
12 papers
NM_032409.3
p.E231G
c.692A>G
1 paper
NM_032409.3
p.S230_E231insFs
c.690_691insA
1 paper
NM_032409.3
p.E231insFs
c.691_692insAG
1 paper
NM_032409.3
p.A232V
c.695C>T
1 paper
NM_032409.3
p.S229Y
c.686C>A
1 paper
NM_032409.3
p.S229A
c.685T>G
1 paper
NM_032409.3
p.I233N
c.698T>A
1 paper
NM_032409.3
p.S228F
c.683C>T
1 paper
NM_032409.3
p.S228T
c.682T>A
9 papers
NM_032409.3
p.S228A
c.682T>G
1 paper
NM_032409.3
p.L234S
c.701T>C
1 paper
NM_032409.3
p.G227D
c.680G>A
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