Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.G5V

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.G5V
c.14G>T
Surrounding Variants
1 paper
NM_012388.4
p.P4L
c.11C>T
1 paper
NM_012388.4
p.M1I
c.3G>A
1 paper
NM_012388.4
p.M1K
c.2T>A
1 paper
NM_012388.4
p.M1T
c.2T>C
1 paper
NM_012388.4
p.M1insFs
c.1_2insT
1 paper
NM_012388.4
p.G11R
c.31G>C
1 paper
NM_012388.4
p.A12T
c.34G>A
1 paper
NM_012388.4
p.G28Splc
c.82+1G>A
1 paper
NM_012388.4
p.G28Splc
c.82+1G>T
1 paper
NM_012388.4
p.G28Splc
c.82+6T>G
1 paper
NM_001311255.1
p.M1K
c.2T>A
1 paper
NM_001311255.1
p.T4A
c.10A>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."