Varaico: Literature-Extracted Genetic Variants

Gene:MVB12B
Variant:p.Q17R

MVB12B

25 papers

RefSeq Summary

The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. E...

Pfam Domains

MABPaa 47–197UCSCMABP domain

Gene Aliases

HGNC Name

multivesicular body subunit 12B

HGNC Previous Symbols

C9orf28; FAM125B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033446.3
p.Q17R
c.50A>G
Surrounding Variants
1 paper
NM_033446.3
p.R9R
c.27G>A
1 paper
NM_033446.3
p.V7V
c.21G>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."