Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.M556I

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.M556I
c.1668G>T
Surrounding Variants
1 paper
NM_032409.3
p.M556I
c.1668G>A
1 paper
NM_032409.3
p.M556I
c.1668G>C
1 paper
NM_032409.3
p.L557P
c.1670T>C
1 paper
NM_032409.3
p.K555*
c.1663A>T
1 paper
NM_032409.3
p.E551G
c.1652A>G
2 papers
NM_032409.3
p.E563*
c.1687G>T
2 papers
NM_032409.3
p.E551delFs
c.1651delG
1 paper
NM_032409.3
p.C549fs
c.1645_1646fs
1 paper
NM_032409.3
p.C564W
c.1692T>G
2 papers
NM_032409.3
p.C549_V550delFs
c.1647_1650del4
1 paper
NM_032409.3
p.E565G
c.1694A>G
1 paper
NM_032409.3
p.E565D
c.1695A>C
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