Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.S401N

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.S401N
c.1202G>A
Surrounding Variants
1 paper
NM_032409.3
p.S402C
c.1204A>T
3 papers
NM_032409.3
p.S402N
c.1205G>A
1 paper
NM_032409.3
p.F400fs
c.1198_1199fs
15 papers
NM_032409.3
p.P399L
c.1196C>T
4 papers
NM_032409.3
p.W403*
c.1208G>A
2 papers
NM_032409.3
p.P399A
c.1195C>G
3 papers
NM_032409.3
p.W403*
c.1209G>A
1 paper
NM_032409.3
p.L398F
c.1194G>C
1 paper
NM_032409.3
p.L398F
c.1194G>T
1 paper
NM_032409.3
p.Y404H
c.1210T>C
3 papers
NM_032409.3
p.Y404*
c.1212C>A
3 papers
NM_032409.3
p.Y404*
c.1212C>G
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