Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R147C

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
2 papers
NM_032409.3
p.R147C
c.439C>T
Surrounding Variants
17 papers
NM_032409.3
p.R147H
c.440G>A
1 paper
NM_032409.3
p.L148W
c.443T>G
10 papers
NM_032409.3
p.T145M
c.434C>T
1 paper
NM_032409.3
p.Q149H
c.447G>C
1 paper
NM_032409.3
p.Q149H
c.447G>T
1 paper
NM_032409.3
p.G150S
c.448G>A
1 paper
NM_032409.3
p.L143*
c.428T>A
2 papers
NM_032409.3
p.P142L
c.425C>T
1 paper
NM_032409.3
p.F151L
c.453T>A
1 paper
NM_032409.3
p.P142A
c.424C>G
7 papers
NM_032409.3
p.R152W
c.454C>T
1 paper
NM_032409.3
p.R152L
c.455G>T
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