Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A340T

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
49 papers
NM_032409.3
p.A340T
c.1018G>A
Surrounding Variants
1 paper
NM_032409.3
p.A340P
c.1018G>C
2 papers
NM_032409.3
p.A340S
c.1018G>T
1 paper
NM_032409.3
p.A340G
c.1019C>G
1 paper
NM_032409.3
p.A340V
c.1019C>T
1 paper
NM_032409.3
p.A339V
c.1016C>T
1 paper
NM_032409.3
p.M341V
c.1021A>G
33 papers
NM_032409.3
p.A339T
c.1015G>A
5 papers
NM_032409.3
p.A339S
c.1015G>T
8 papers
NM_032409.3
p.M341I
c.1023G>A
7 papers
NM_032409.3
p.M341I
c.1023G>C
7 papers
NM_032409.3
p.M341I
c.1023G>T
1 paper
NM_032409.3
p.M342_L343insA
c.1024_1028ins3
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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."