All variants in the VAPB gene

Information The variants shown are described using the transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? ? c.166C>T r.(?) p.(Pro56Ser) - pathogenic g.56993374C>T g.58418318C>T - - VAPB_000004 The mutant protein forms insoluble cytosolic aggregates PubMed: Nishimura 2004; Submitted through SIB; ExPASy_026743 - - Unknown - - - 0 - SIB - Livia Famiglietti
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