Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P289T

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
4 papers
NM_032409.3
p.P289T
c.865C>A
Surrounding Variants
1 paper
NM_032409.3
p.P289delFs
c.867delA
2 papers
NM_032409.3
p.A291delFs
c.871delG
1 paper
NM_032409.3
p.L288M
c.862C>A
1 paper
NM_032409.3
p.A291fs
c.871_872fs
1 paper
NM_032409.3
p.A291fs
c.871_872fs
2 papers
NM_032409.3
p.P286L
c.857C>T
1 paper
NM_032409.3
p.A291A
c.873C>T
1 paper
NM_032409.3
p.P286S
c.856C>T
1 paper
NM_032409.3
p.V285M
c.853G>A
1 paper
NM_032409.3
p.V285L
c.853G>C
1 paper
NM_032409.3
p.V285L
c.853G>T
5 papers
NM_032409.3
p.S284S
c.852C>T
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