Varaico: Literature-Extracted Genetic Variants

Gene:PACRG
Variant:p.H137H

PACRG

65 papers

RefSeq Summary

This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal rece...

Pfam Domains

ParcGaa 70–215UCSCParkin co-regulated protein
ParcGaa 234–292UCSCParkin co-regulated protein

Gene Aliases

HGNC Name

parkin coregulated

HGNC Alias Symbols

PARK2CRG; FLJ32724; Glup; HAK005771; BUG21; pf12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080379.2
p.H137H
c.411C>T
Surrounding Variants
1 paper
NM_001080379.2
p.E136A
c.407A>C
1 paper
NM_001080379.2
p.G139G
c.417G>T
1 paper
NM_001080379.2
p.D133V
c.398A>T
1 paper
NM_001080379.2
p.L143_V145del3
c.427_434del9
2 papers
NM_001080379.2
p.D133N
c.397G>A
1 paper
NM_001080379.2
p.H132Y
c.394C>T
1 paper
NM_001080379.2
p.G130R
c.388G>A
1 paper
NM_001080379.2
p.G130R
c.388G>C
1 paper
NM_001080379.2
p.P147S
c.439C>T
1 paper
NM_001080379.2
p.R128Q
c.383G>A
1 paper
NM_001080379.2
p.R128W
c.382C>T
1 paper
NM_001080379.2
p.F126_A127delFs
c.378_379delTG
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