Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V3_R4del2

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.V3_R4del2
c.7_11del6
Surrounding Variants
1 paper
NM_032409.3
p.A2A
c.6G>C
4 papers
NM_032409.3
p.A2V
c.5C>T
2 papers
NM_032409.3
p.V3delFs
c.8delT
1 paper
NM_032409.3
p.A2insFs
c.5dupC
1 paper
NM_032409.3
p.V3E
c.8T>A
1 paper
NM_032409.3
p.V3insFs
c.8_9insA
3 papers
NM_032409.3
p.M1I
c.3G>A
1 paper
NM_032409.3
p.M1I
c.3G>C
1 paper
NM_032409.3
p.M1_A2insFs
c.3_4insA
1 paper
NM_032409.3
p.R4insFs
c.10dupC
1 paper
NM_032409.3
p.M1_A2insFs
c.3_4insT
1 paper
NM_032409.3
p.V3_R4insFs
c.9_10insT
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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."