Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Y431H

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
16 papers
NM_032409.3
p.Y431H
c.1291T>C
Surrounding Variants
1 paper
NM_032409.3
p.D430E
c.1290C>A
1 paper
NM_032409.3
p.D430E
c.1290C>G
2 papers
NM_032409.3
p.Y431*
c.1293C>A
2 papers
NM_032409.3
p.Y431*
c.1293C>G
1 paper
NM_032409.3
p.S432N
c.1295G>A
1 paper
NM_032409.3
p.I429T
c.1286T>C
1 paper
NM_032409.3
p.K433R
c.1298A>G
1 paper
NM_032409.3
p.V428insFs
c.1283_1284insA
1 paper
NM_032409.3
p.V428L
c.1282G>C
1 paper
NM_032409.3
p.V428L
c.1282G>T
1 paper
NM_032409.3
p.D435del1
c.1303_1305delGAT
6 papers
NM_032409.3
p.A427E
c.1280C>A
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