Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N273S

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.N273S
c.818A>G
Surrounding Variants
4 papers
NM_032409.3
p.I275del1
c.823_824delATC
3 papers
NM_032409.3
p.N273K
c.819C>A
3 papers
NM_032409.3
p.N273K
c.819C>G
2 papers
NM_032409.3
p.P272P
c.816C>T
1 paper
NM_032409.3
p.P272T
c.814C>A
1 paper
NM_032409.3
p.I275V
c.823A>G
38 papers
NM_032409.3
p.H271Q
c.813C>A
36 papers
NM_032409.3
p.H271Q
c.813C>G
1 paper
NM_032409.3
p.H271P
c.812A>C
1 paper
NM_032409.3
p.P270L
c.809C>T
9 papers
NM_032409.3
p.R276Q
c.827G>A
4 papers
NM_032409.3
p.L268L
c.804A>G
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