Variant #0000239978 (NC_000009.11:g.35067907G>C, VCP(NM_007126.3):c.283C>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.35067907G>C
DNA change (hg38) g.35067910G>C
Published as -
ISCN -
DB-ID VCP_000004 See all 3 reported entries
Variant remarks expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure
Reference PubMed: Weihl 2006, OMIM:var0004
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCP NM_007126.3 +/. 3 c.283C>G r.283c>g p.Arg95Gly