Varaico: Literature-Extracted Genetic Variants

Gene:PACRG
Variant:p.Q26H

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.Q26H
c.78A>T
Surrounding Variants
1 paper
NM_001080379.2
p.Q26H
c.78A>C
1 paper
NM_001080379.2
p.H32L
c.95A>T
1 paper
NM_001080379.2
p.K19E
c.55A>G
1 paper
NM_001080379.2
p.P34L
c.101C>T
1 paper
NM_001080379.2
p.K16*
c.46A>T
1 paper
NM_001080379.2
p.A46T
c.136G>A
1 paper
NM_001080379.2
p.A46P
c.136G>C
1 paper
NM_001080379.2
p.M48_K49del1
c.143_145delTGA
1 paper
NM_001080379.2
p.M47I
c.141G>A
1 paper
NM_001080379.2
p.M47I
c.141G>C
1 paper
NM_001080379.2
p.M47I
c.141G>T
1 paper
NM_001080379.2
p.A3V
c.8C>T
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