Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L471L

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
2 papers
NM_032409.3
p.L471L
c.1413A>T
Surrounding Variants
1 paper
NM_032409.3
p.L471V
c.1411C>G
1 paper
NM_032409.3
p.P475delFs
c.1423delC
28 papers
NM_032409.3
p.E476K
c.1426G>A
1 paper
NM_032409.3
p.E476*
c.1426G>T
1 paper
NM_032409.3
p.E476D
c.1428G>C
1 paper
NM_032409.3
p.E476D
c.1428G>T
1 paper
NM_032409.3
p.S477T
c.1429T>A
1 paper
NM_032409.3
p.Y466fs
c.1396_1397fs
1 paper
NM_032409.3
p.Y466insFs
c.1396dupT
1 paper
NM_032409.3
p.V478M
c.1432G>A
20 papers
NM_032409.3
p.R464H
c.1391G>A
2 papers
NM_032409.3
p.R464C
c.1390C>T
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