Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D384A

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
45 papers
NM_032409.3
p.D384A
c.1151A>C
Surrounding Variants
2 papers
NM_032409.3
p.D384V
c.1151A>T
2 papers
NM_032409.3
p.D384N
c.1150G>A
9 papers
NM_032409.3
p.F385L
c.1153T>C
1 paper
NM_032409.3
p.A383V
c.1148C>T
2 papers
NM_032409.3
p.F385S
c.1154T>C
17 papers
NM_032409.3
p.A383T
c.1147G>A
1 paper
NM_032409.3
p.A383S
c.1147G>T
9 papers
NM_032409.3
p.F385L
c.1155T>A
9 papers
NM_032409.3
p.F385L
c.1155T>G
1 paper
NM_032409.3
p.G386S
c.1156G>A
1 paper
NM_032409.3
p.G386R
c.1156G>C
27 papers
NM_032409.3
p.G386A
c.1157G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."