Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S4
Variant:p.R143S

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
Selected Variant
1 paper
NM_018366.3
p.R143S
c.429G>T
Surrounding Variants
1 paper
NM_018366.3
p.R143S
c.429G>C
1 paper
NM_018366.3
p.E154G
c.461A>G
1 paper
NM_018366.3
p.R120H
c.359G>A
1 paper
NM_018366.3
p.R120S
c.358C>A
1 paper
NM_018366.3
p.A169A
c.507G>A
1 paper
NM_018366.3
p.L103L
c.307C>T
1 paper
NM_018366.3
p.R95T
c.284G>C
1 paper
NM_018366.3
p.E90K
c.268G>A
1 paper
NM_018366.3
p.S88N
c.263G>A
1 paper
NM_018366.3
p.E83G
c.248A>G
1 paper
NM_018366.3
p.D206G
c.617A>G
1 paper
NM_018366.3
p.D206V
c.617A>T
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