Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S1
Variant:p.L116P

BLOC1S1

20 papers

RefSeq Summary

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as me...

Pfam Domains

GCN5L1aa 33–146UCSCGCN5-like protein 1 (GCN5L1)

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 1

HGNC Previous Symbol

GCN5L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001487.4
p.L116P
c.347T>C
Surrounding Variants
1 paper
NM_001487.4
p.A115S
c.343G>T
1 paper
NM_001487.4
p.I106M
c.318C>G
2 papers
NM_001487.4
p.A95D
c.284C>A
1 paper
NM_001487.4
p.V93F
c.277G>T
3 papers
NM_001487.4
p.G120E
c.359G>A
2 papers
NM_001487.4
p.G120G
c.360G>C
1 paper
NM_001487.4
p.*154W
c.461A>G
2 papers
NM_001487.4
p.G73Splc
c.218+3A>G
3 papers
NM_001487.4
p.H69P
c.206A>C
3 papers
NM_001487.4
p.D68N
c.202G>A
3 papers
NM_001487.4
p.L62P
c.185T>C
1 paper
NM_001487.4
p.R51_E54del4
c.151_161del12
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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."