Varaico: Literature-Extracted Genetic Variants

Gene:PACRG
Variant:p.K217K

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.K217K
c.651G>A
Surrounding Variants
1 paper
NM_001080379.2
p.G222E
c.665G>A
1 paper
NM_001080379.2
p.I225I
c.675C>A
1 paper
NM_001080379.2
p.E227insFs
c.680dupA
1 paper
NM_001080379.2
p.S207S
c.621C>G
1 paper
NM_001080379.2
p.N206delFs
c.616delA
3 papers
NM_001080379.2
p.R234C
c.700C>T
1 paper
NM_001080379.2
p.G236R
c.706G>A
1 paper
NM_001080379.2
p.N239insFs
c.715dupA
1 paper
NM_001080379.2
p.K245R
c.734A>G
1 paper
NM_001080379.2
p.V248V
c.744C>G
1 paper
NM_001080379.2
p.E252K
c.754G>A
1 paper
NM_001080379.2
p.C254R
c.760T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."