Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E252D

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.E252D
c.756G>C
Surrounding Variants
1 paper
NM_032409.3
p.E252D
c.756G>T
2 papers
NM_032409.3
p.E252V
c.755A>T
1 paper
NM_032409.3
p.Y253D
c.757T>G
1 paper
NM_032409.3
p.Y253F
c.758A>T
1 paper
NM_032409.3
p.E252K
c.754G>A
1 paper
NM_032409.3
p.A255A
c.765A>T
6 papers
NM_032409.3
p.L249V
c.745T>G
3 papers
NM_032409.3
p.T257A
c.769A>G
1 paper
NM_032409.3
p.T257S
c.769A>T
1 paper
NM_032409.3
p.A248G
c.743C>G
1 paper
NM_032409.3
p.T257N
c.770C>A
1 paper
NM_032409.3
p.T257S
c.770C>G
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