Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S5
Variant:p.V116A

BLOC1S5

29 papers

RefSeq Summary

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-...

Pfam Domains

Mutedaa 36–85UCSCOrganelle biogenesis, Muted-like protein

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 5

HGNC Previous Symbol

MUTED

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_201280.3
p.V116A
c.347T>C
Surrounding Variants
4 papers
NM_201280.3
p.S115delFs
c.345delT
3 papers
NM_201280.3
p.V116fs
c.346_347fs
1 paper
NM_201280.3
p.C117insFs
c.351dupT
1 paper
NM_201280.3
p.L119P
c.356T>C
1 paper
NM_001199322.1
p.E61delFs
c.181delC
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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."