Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
3 papers
NM_032409.3
p.M1I
c.3G>A
1 paper
NM_032409.3
p.M1_A2insFs
c.3_4insA
1 paper
NM_032409.3
p.M1_A2insFs
c.3_4insT
1 paper
NM_032409.3
p.M1I
c.3G>T
1 paper
NM_032409.3
p.A2insFs
c.5dupC
1 paper
NM_032409.3
p.M1K
c.2T>A
6 papers
NM_032409.3
p.M1T
c.2T>C
1 paper
NM_032409.3
p.M1insFs
c.2_3insA
1 paper
NM_032409.3
p.M1insFs
c.3dupG
1 paper
NM_032409.3
p.M1_A2delFs
c.3_4delGG
1 paper
NM_032409.3
p.A2_Q12del11
c.4_35del33
1 paper
NM_032409.3
p.M1L
c.1A>C
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