Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A494V

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.A494V
c.1481C>T
Surrounding Variants
1 paper
NM_032409.3
p.A494D
c.1481C>A
1 paper
NM_032409.3
p.R492Q
c.1475G>A
46 papers
NM_032409.3
p.R492*
c.1474C>T
13 papers
NM_032409.3
p.K496_R497Splc
c.1488+1G>A
3 papers
NM_032409.3
p.K496_R497Splc
c.1488+1G>T
1 paper
NM_032409.3
p.L490F
c.1468C>T
27 papers
NM_032409.3
p.L489P
c.1466T>C
1 paper
NM_032409.3
p.A488A
c.1464A>T
2 papers
NM_032409.3
p.K496_R497Splc
c.1488+14C>G
1 paper
NM_032409.3
p.R487T
c.1460G>C
1 paper
NM_032409.3
p.V486_K496del0
c.1456_1488del33
2 papers
NM_032409.3
p.R483fs
c.1447_1448fs
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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."