Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L347P

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
124 papers
NM_032409.3
p.L347P
c.1040T>C
Surrounding Variants
1 paper
NM_032409.3
p.G349C
c.1045G>T
1 paper
NM_032409.3
p.V350L
c.1048G>C
1 paper
NM_032409.3
p.V350L
c.1048G>T
1 paper
NM_032409.3
p.L344R
c.1031T>G
1 paper
NM_032409.3
p.L344M
c.1030C>A
1 paper
NM_032409.3
p.D351N
c.1051G>A
2 papers
NM_032409.3
p.M342I
c.1026G>A
2 papers
NM_032409.3
p.M342I
c.1026G>C
2 papers
NM_032409.3
p.M342I
c.1026G>T
1 paper
NM_032409.3
p.H352P
c.1055A>C
1 paper
NM_032409.3
p.M342_L343insA
c.1024_1028ins3
2 papers
NM_032409.3
p.M342L
c.1024A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."