Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.S67*

BLOC1S6

49 papers

RefSeq Summary

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms...

Pfam Domains

Snapin_Pallidinaa 55–145UCSCSnapin/Pallidin

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 6

HGNC Previous Symbol

PLDN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012388.4
p.S67*
c.200C>G
Surrounding Variants
2 papers
NM_012388.4
p.S67*
c.200C>A
1 paper
NM_012388.4
p.Q69P
c.206A>C
1 paper
NM_012388.4
p.D63N
c.187G>A
1 paper
NM_001311255.1
p.P67R
c.200C>G
2 papers
NM_012388.4
p.T75Splc
c.224+1G>A
1 paper
NM_012388.4
p.L57H
c.170T>A
1 paper
NM_012388.4
p.Q51fs
c.151_152fs
3 papers
NM_012388.4
p.E50*
c.148G>T
1 paper
NM_012388.4
p.V49A
c.146T>C
1 paper
NM_001311255.1
p.E50*
c.148G>T
1 paper
NM_012388.4
p.L42S
c.125T>C
1 paper
NM_012388.4
p.E40K
c.118G>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."