Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R4insFs

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.R4insFs
c.12dupA
Surrounding Variants
1 paper
NM_032409.3
p.R4R
c.12A>T
2 papers
NM_032409.3
p.Q5*
c.13C>T
1 paper
NM_032409.3
p.R4insFs
c.10dupC
1 paper
NM_032409.3
p.V3_R4insFs
c.9_10insT
1 paper
NM_032409.3
p.A6insFs
c.16_17insG
1 paper
NM_032409.3
p.Q5P
c.14A>C
1 paper
NM_032409.3
p.V3E
c.8T>A
1 paper
NM_032409.3
p.V3insFs
c.8_9insA
1 paper
NM_032409.3
p.Q5Q
c.15G>A
2 papers
NM_032409.3
p.V3delFs
c.8delT
2 papers
NM_032409.3
p.A6T
c.16G>A
1 paper
NM_032409.3
p.A2A
c.6G>C
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