Varaico: Literature-Extracted Genetic Variants

Gene:VTA1
Variant:p.C38S

VTA1

27 papers

RefSeq Summary

C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 156...

Pfam Domains

Vta1aa 16–158UCSCVta1 like
Vta1_Caa 266–303UCSCVta1 C-terminal domain

Gene Aliases

HGNC Name

vesicle trafficking 1

HGNC Previous Symbol

C6orf55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016485.5
p.C38S
c.113G>C
Surrounding Variants
1 paper
NM_016485.5
p.C38S
c.112T>A
1 paper
NM_016485.5
p.Y36F
c.107A>T
1 paper
NM_016485.5
p.A5V
c.14C>T
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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."