Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.Q140delFs

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
1 paper
NM_012388.4
p.Q140delFs
c.419_420delAG
Surrounding Variants
1 paper
NM_012388.4
p.Q140fs
c.418_419fs
1 paper
NM_001311255.1
p.E154G
c.461A>G
1 paper
NM_012388.4
p.R150M
c.449G>T
1 paper
NM_012388.4
p.M124V
c.370A>G
1 paper
NM_012388.4
p.E121*
c.361G>T
3 papers
NM_012388.4
p.I118fs
c.352_353fs
3 papers
NM_012388.4
p.N117insFs
c.351dupT
1 paper
NM_012388.4
p.V116A
c.347T>C
1 paper
NM_001311255.1
p.H117insFs
c.351dupT
1 paper
NM_012388.4
p.H110Q
c.330C>A
1 paper
NM_012388.4
p.H110Q
c.330C>G
1 paper
NM_012388.4
p.H110R
c.329A>G
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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."