Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.E115*

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.E115*
c.343G>T
Surrounding Variants
1 paper
NM_212550.5
p.L113L
c.339G>A
3 papers
NM_212550.5
p.L113fs
c.337_338fs
1 paper
NM_212550.5
p.L113delFs
c.337delC
3 papers
NM_212550.5
p.L113_A114delFs
c.338_341del4
5 papers
NM_212550.5
p.L108V
c.322C>G
1 paper
NM_212550.5
p.P104S
c.310C>T
4 papers
NM_212550.5
p.S129_A135delFs
c.385_403del19
1 paper
NM_212550.5
p.S129G
c.385A>G
4 papers
NM_212550.5
p.S129fs
c.385_386fs
2 papers
NM_212550.5
p.A101insFs
c.301_302insC
1 paper
NM_212550.5
p.P100T
c.298C>A
1 paper
NM_212550.5
p.E98*
c.292G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."