Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D391D

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
5 papers
NM_032409.3
p.D391D
c.1173T>C
Surrounding Variants
1 paper
NM_032409.3
p.D391A
c.1172A>C
1 paper
NM_032409.3
p.E392A
c.1175A>C
1 paper
NM_032409.3
p.E392D
c.1176G>C
1 paper
NM_032409.3
p.E392D
c.1176G>T
1 paper
NM_032409.3
p.S393N
c.1178G>A
1 paper
NM_032409.3
p.S393T
c.1178G>C
1 paper
NM_032409.3
p.I394L
c.1180A>C
1 paper
NM_032409.3
p.I394V
c.1180A>G
1 paper
NM_032409.3
p.I394N
c.1181T>A
2 papers
NM_032409.3
p.G395S
c.1183G>A
2 papers
NM_032409.3
p.G395C
c.1183G>T
7 papers
NM_032409.3
p.G395V
c.1184G>T
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