Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N521T

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
60 papers
NM_032409.3
p.N521T
c.1562A>C
Surrounding Variants
2 papers
NM_032409.3
p.N521I
c.1562A>T
2 papers
NM_032409.3
p.N521fs
c.1561_1562fs
1 paper
NM_032409.3
p.N521H
c.1561A>C
3 papers
NM_032409.3
p.N521delFs
c.1562_1563delAT
2 papers
NM_032409.3
p.N521fs
c.1561_1562fs
1 paper
NM_032409.3
p.N521K
c.1563T>A
1 paper
NM_032409.3
p.N521K
c.1563T>G
1 paper
NM_032409.3
p.K520_N521delins
c.1560_1562delinsAAC
1 paper
NM_032409.3
p.N521del1
c.1561_1562delAAT
1 paper
NM_032409.3
p.K520delFs
c.1560delG
1 paper
NM_032409.3
p.K520*
c.1558A>T
2 papers
NM_032409.3
p.K520fs
c.1558_1559fs
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