Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A103D

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.A103D
c.308C>A
Surrounding Variants
1 paper
NM_032409.3
p.A103T
c.307G>A
1 paper
NM_032409.3
p.F104L
c.310T>C
1 paper
NM_032409.3
p.F104V
c.310T>G
1 paper
NM_032409.3
p.F104Y
c.311T>A
1 paper
NM_032409.3
p.F104S
c.311T>C
2 papers
NM_032409.3
p.F104C
c.311T>G
1 paper
NM_032409.3
p.F104L
c.312C>A
1 paper
NM_032409.3
p.F104L
c.312C>G
1 paper
NM_032409.3
p.L106L
c.316C>T
2 papers
NM_032409.3
p.F101_L102del2
c.301_305del6
1 paper
NM_032409.3
p.L106R
c.317T>G
2 papers
NM_032409.3
p.G107R
c.319G>C
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