Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S1
Variant:p.H69P

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
3 papers
NM_001487.4
p.H69P
c.206A>C
Surrounding Variants
3 papers
NM_001487.4
p.D68N
c.202G>A
2 papers
NM_001487.4
p.G73Splc
c.218+3A>G
3 papers
NM_001487.4
p.L62P
c.185T>C
1 paper
NM_001487.4
p.R51_E54del4
c.151_161del12
1 paper
NM_001487.4
p.E49fs
c.145_146fs
1 paper
NM_001487.4
p.E49*
c.145G>T
1 paper
NM_001487.4
p.E46D
c.138G>C
1 paper
NM_001487.4
p.E46D
c.138G>T
1 paper
NM_001487.4
p.L30R
c.89T>G
1 paper
NM_001487.4
p.M1K
c.2T>A
1 paper
NM_001487.4
p.V93F
c.277G>T
2 papers
NM_001487.4
p.A95D
c.284C>A
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