Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N320Splc

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
15 papers
NM_032409.3
p.N320Splc
c.960-5G>A
Surrounding Variants
2 papers
NM_032409.3
p.N320Splc
c.960-2A>G
1 paper
NM_032409.3
p.N320Splc
c.960-8T>A
2 papers
NM_032409.3
p.Y321C
c.962A>G
1 paper
NM_032409.3
p.P322insFs
c.965_966insC
2 papers
NM_032409.3
p.P322A
c.964C>G
8 papers
NM_032409.3
p.P322L
c.965C>T
1 paper
NM_032409.3
p.P322P
c.966C>T
2 papers
NM_032409.3
p.C323S
c.967T>A
1 paper
NM_032409.3
p.C323fs
c.967_968fs
3 papers
NM_032409.3
p.C323Y
c.968G>A
2 papers
NM_032409.3
p.C323S
c.968G>C
1 paper
NM_032409.3
p.C323F
c.968G>T
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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."