Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.Q4*

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
1 paper
NM_212550.5
p.Q4*
c.10C>T
Surrounding Variants
2 papers
NM_212550.5
p.R6H
c.17G>A
1 paper
NM_212550.5
p.M1K
c.2T>A
1 paper
NM_212550.5
p.P14insFs
c.41dupC
2 papers
NM_212550.5
p.E21G
c.62A>G
1 paper
NM_212550.5
p.A31V
c.92C>T
1 paper
NM_212550.5
p.S34A
c.100T>G
2 papers
NM_212550.5
p.S34*
c.101C>A
3 papers
NM_212550.5
p.S44*
c.131C>A
1 paper
NM_212550.5
p.T47R
c.140C>G
1 paper
NM_212550.5
p.R50C
c.148C>T
1 paper
NM_212550.5
p.V56G
c.167T>G
1 paper
NM_212550.5
p.P73P
c.219G>A
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