Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.W577*

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.W577*
c.1730G>A
Surrounding Variants
1 paper
NM_032409.3
p.W577*
c.1731G>A
1 paper
NM_032409.3
p.W577C
c.1731G>C
1 paper
NM_032409.3
p.W577C
c.1731G>T
4 papers
NM_032409.3
p.W577R
c.1729T>A
4 papers
NM_032409.3
p.W577R
c.1729T>C
1 paper
NM_032409.3
p.S576S
c.1728A>G
2 papers
NM_032409.3
p.S576*
c.1727C>A
2 papers
NM_032409.3
p.S576*
c.1727C>G
1 paper
NM_032409.3
p.A579S
c.1735G>T
19 papers
NM_032409.3
p.C575R
c.1723T>C
1 paper
NM_032409.3
p.L573P
c.1718T>C
2 papers
NM_032409.3
p.*582L
c.1745G>T
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