Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S4

BLOC1S4

17 papers

RefSeq Summary

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a ...

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 4

HGNC Previous Symbol

CNO

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
1 paper
NM_018366.3
p.M1K
c.2T>A
1 paper
NM_018366.3
p.S4G
c.10A>G
1 paper
NM_018366.3
p.E47*
c.139G>T
1 paper
NM_018366.3
p.R63H
c.188G>A
1 paper
NM_018366.3
p.A66E
c.197C>A
1 paper
NM_018366.3
p.L73L
c.219G>A
1 paper
NM_018366.3
p.E83G
c.248A>G
1 paper
NM_018366.3
p.S88N
c.263G>A
1 paper
NM_018366.3
p.E90K
c.268G>A
1 paper
NM_018366.3
p.R95T
c.284G>C
1 paper
NM_018366.3
p.L103L
c.307C>T
1 paper
NM_018366.3
p.R120S
c.358C>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."