Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P36P

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.P36P
c.108G>A
Surrounding Variants
1 paper
NM_032409.3
p.P36delFs
c.108delG
3 papers
NM_032409.3
p.P36T
c.106C>A
2 papers
NM_032409.3
p.A37V
c.110C>T
1 paper
NM_032409.3
p.A37A
c.111G>A
1 paper
NM_032409.3
p.A37_A38ins1
c.111_112insTTC
1 paper
NM_032409.3
p.A38T
c.112G>A
1 paper
NM_032409.3
p.A38V
c.113C>T
1 paper
NM_032409.3
p.A38_G39Fs
c.113_115delinsTTFs
2 papers
NM_032409.3
p.P34R
c.101C>G
4 papers
NM_032409.3
p.P34L
c.101C>T
1 paper
NM_032409.3
p.G35delFs
c.104delG
1 paper
NM_032409.3
p.G39R
c.115G>C
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