Varaico: Literature-Extracted Genetic Variants

Gene:PACRG
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_001080379.2
p.M1I
c.3G>C
1 paper
NM_001080379.2
p.M1I
c.3G>T
1 paper
NM_001080379.2
p.M1K
c.2T>A
1 paper
NM_001080379.2
p.M1T
c.2T>C
1 paper
NM_001080379.2
p.M1insFs
c.3dupG
1 paper
NM_001080379.2
p.M1insFs
c.2dupT
1 paper
NM_001080379.2
p.M1L
c.1A>C
1 paper
NM_001080379.2
p.M1L
c.1A>T
1 paper
NM_001080379.2
p.M1delFs
c.2delT
1 paper
NM_001080379.2
p.A3V
c.8C>T
1 paper
NM_001080379.2
p.K16*
c.46A>T
1 paper
NM_001080379.2
p.K19E
c.55A>G
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