Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D366N

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.D366N
c.1096G>A
Surrounding Variants
1 paper
NM_032409.3
p.D366_N367del1
c.1097_1099delACA
1 paper
NM_032409.3
p.D366A
c.1097A>C
2 papers
NM_032409.3
p.S365S
c.1095C>T
14 papers
NM_032409.3
p.N367S
c.1100A>G
1 paper
NM_032409.3
p.N367I
c.1100A>T
1 paper
NM_032409.3
p.N367N
c.1101C>T
26 papers
NM_032409.3
p.I368N
c.1103T>A
1 paper
NM_032409.3
p.L369F
c.1105C>T
24 papers
NM_032409.3
p.L369P
c.1106T>C
40 papers
NM_032409.3
p.D362A
c.1085A>C
2 papers
NM_032409.3
p.D362N
c.1084G>A
5 papers
NM_032409.3
p.D362H
c.1084G>C
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