Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.Q150delFs

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
Selected Variant
4 papers
NM_212550.5
p.Q150delFs
c.448delC
Surrounding Variants
1 paper
NM_212550.5
p.Q150fs
c.448_449fs
3 papers
NM_212550.5
p.A148_A156del0
c.444_467del24
1 paper
NM_212550.5
p.V160M
c.478G>A
3 papers
NM_212550.5
p.V160L
c.478G>C
1 paper
NM_212550.5
p.V160L
c.478G>T
1 paper
NM_212550.5
p.A163E
c.488C>A
1 paper
NM_212550.5
p.L167F
c.499C>T
1 paper
NM_212550.5
p.S129G
c.385A>G
4 papers
NM_212550.5
p.S129fs
c.385_386fs
1 paper
NM_212550.5
p.A169S
c.505G>T
1 paper
NM_212550.5
p.A169A
c.507G>A
4 papers
NM_212550.5
p.S129_A135delFs
c.385_403del19
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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."