Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V285L

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.V285L
c.853G>C
Surrounding Variants
1 paper
NM_032409.3
p.V285M
c.853G>A
1 paper
NM_032409.3
p.V285L
c.853G>T
5 papers
NM_032409.3
p.S284S
c.852C>T
4 papers
NM_032409.3
p.S284Y
c.851C>A
1 paper
NM_032409.3
p.S284F
c.851C>T
1 paper
NM_032409.3
p.P286S
c.856C>T
2 papers
NM_032409.3
p.P286L
c.857C>T
1 paper
NM_032409.3
p.S283C
c.848C>G
2 papers
NM_032409.3
p.T282T
c.846C>G
1 paper
NM_032409.3
p.T282S
c.845C>G
1 paper
NM_032409.3
p.T282P
c.844A>C
1 paper
NM_032409.3
p.T282S
c.844A>T
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