Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E113*

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.E113*
c.337G>T
Surrounding Variants
1 paper
NM_032409.3
p.K114_Q115insFs
c.342_343insA
1 paper
NM_032409.3
p.E113fs
c.337_338fs
1 paper
NM_032409.3
p.E113fs
c.337_338fs
2 papers
NM_032409.3
p.E113A
c.338A>C
1 paper
NM_032409.3
p.E113_Q126delFs
c.337_376del40
1 paper
NM_032409.3
p.E112A
c.335A>C
25 papers
NM_032409.3
p.E113D
c.339A>T
1 paper
NM_032409.3
p.E112V
c.335A>T
1 paper
NM_032409.3
p.E112delFs
c.336delG
33 papers
NM_032409.3
p.K114*
c.340A>T
1 paper
NM_032409.3
p.I111M
c.333C>G
1 paper
NM_032409.3
p.I111N
c.332T>A
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