Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R337C

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.R337C
c.1009C>T
Surrounding Variants
2 papers
NM_032409.3
p.S335T
c.1004G>C
1 paper
NM_032409.3
p.S335G
c.1003A>G
33 papers
NM_032409.3
p.A339T
c.1015G>A
5 papers
NM_032409.3
p.A339S
c.1015G>T
1 paper
NM_032409.3
p.S335Fs
c.1003delinsGAFs
1 paper
NM_032409.3
p.A339V
c.1016C>T
1 paper
NM_032409.3
p.P334S
c.1000C>T
49 papers
NM_032409.3
p.A340T
c.1018G>A
1 paper
NM_032409.3
p.A340P
c.1018G>C
2 papers
NM_032409.3
p.A340S
c.1018G>T
1 paper
NM_032409.3
p.A340G
c.1019C>G
1 paper
NM_032409.3
p.A340V
c.1019C>T
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