Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q397*

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.Q397*
c.1189C>T
Surrounding Variants
1 paper
NM_032409.3
p.L398F
c.1194G>C
7 papers
NM_032409.3
p.G395V
c.1184G>T
1 paper
NM_032409.3
p.L398F
c.1194G>T
2 papers
NM_032409.3
p.P399A
c.1195C>G
2 papers
NM_032409.3
p.G395S
c.1183G>A
2 papers
NM_032409.3
p.G395C
c.1183G>T
15 papers
NM_032409.3
p.P399L
c.1196C>T
1 paper
NM_032409.3
p.I394N
c.1181T>A
1 paper
NM_032409.3
p.I394L
c.1180A>C
1 paper
NM_032409.3
p.I394V
c.1180A>G
1 paper
NM_032409.3
p.F400fs
c.1198_1199fs
1 paper
NM_032409.3
p.S393N
c.1178G>A
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