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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLOC1S5

Variant:p.V61delFs

BLOC1S5

29 papers

RefSeq Summary

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-...

Pfam Domains

Mutedaa 36–85UCSCOrganelle biogenesis, Muted-like protein

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 5

HGNC Previous Symbol

MUTED

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:8062547 AC>A

NM_201280.3

p.V61delFs

c.181delC

Muted

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)27 overlapping SVs

Surrounding Variants

1 paper

chr6:8062617 C>T

NM_201280.3

p.D38Splc

c.113-1G>A

exact variant not in gnomAD27 overlapping SVs

1 paper

chr6:8064279 T>C

NM_201280.3

p.H33R

c.98A>G

exact variant not in gnomAD27 overlapping SVs

1 paper

chr6:8064324 C>T

NM_201280.3

p.G18D

c.53G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)27 overlapping SVs

1 paper

chr6:8064364 C>G

NM_201280.3

p.G5R

c.13G>C

exact variant not in gnomAD27 overlapping SVs

1 paper

chr6:8064375 A>T

NM_201280.3

p.M1K

c.2T>A

exact variant not in gnomAD27 overlapping SVs

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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."