Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3

BLOC1S3

56 papers

RefSeq Summary

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, in...

Pfam Domains

BLOC1S3aa 16–187UCSCBiogenesis of lysosome-related organelles complex 1 subunit 3

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 3

HGNC Alias Symbols

BLOS3; HPS8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
5 papers
NM_212550.5
p.L108V
c.322C>G
4 papers
NM_212550.5
p.S129_A135delFs
c.385_403del19
4 papers
NM_212550.5
p.S129fs
c.385_386fs
4 papers
NM_212550.5
p.Q150delFs
c.448delC
3 papers
NM_212550.5
p.S44*
c.131C>A
3 papers
NM_212550.5
p.L113_A114delFs
c.338_341del4
3 papers
NM_212550.5
p.L113fs
c.337_338fs
3 papers
NM_212550.5
p.A148_A156del0
c.444_467del24
3 papers
NM_212550.5
p.V160L
c.478G>C
2 papers
NM_212550.5
p.R6H
c.17G>A
2 papers
NM_212550.5
p.E21G
c.62A>G
2 papers
NM_212550.5
p.S34*
c.101C>A
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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."