Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L461R

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
5 papers
NM_032409.3
p.L461R
c.1382T>G
Surrounding Variants
2 papers
NM_032409.3
p.L461F
c.1381C>T
1 paper
NM_032409.3
p.L461L
c.1383T>C
1 paper
NM_032409.3
p.H460N
c.1378C>A
1 paper
NM_032409.3
p.H460insFs
c.1378_1379insG
1 paper
NM_032409.3
p.A459G
c.1376C>G
2 papers
NM_032409.3
p.R464C
c.1390C>T
20 papers
NM_032409.3
p.R464H
c.1391G>A
1 paper
NM_032409.3
p.Y466insFs
c.1396dupT
1 paper
NM_032409.3
p.Y466fs
c.1396_1397fs
1 paper
NM_032409.3
p.Q456R
c.1367A>G
139 papers
NM_032409.3
p.Q456*
c.1366C>T
3 papers
NM_032409.3
p.G455S
c.1363G>A
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