Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P196fs

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.P196fs
c.586_587fs
Surrounding Variants
5 papers
NM_032409.3
p.P196S
c.586C>T
19 papers
NM_032409.3
p.P196L
c.587C>T
4 papers
NM_032409.3
p.G195G
c.585C>T
2 papers
NM_032409.3
p.P196delFs
c.587delC
1 paper
NM_032409.3
p.G195R
c.583G>C
2 papers
NM_032409.3
p.G197G
c.591T>C
2 papers
NM_032409.3
p.G193E
c.578G>A
1 paper
NM_032409.3
p.G193A
c.578G>C
1 paper
NM_032409.3
p.S199Fs
c.595_597delinsCFs
6 papers
NM_032409.3
p.G193R
c.577G>A
6 papers
NM_032409.3
p.G193R
c.577G>C
1 paper
NM_032409.3
p.S199T
c.596G>C
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