Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.S90I

BMAL1

122 papers

RefSeq Summary

The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Crypt...

Pfam Domains

HLHaa 73–126UCSCHelix-loop-helix DNA-binding domain
PASaa 146–253UCSCPAS fold
PAS_11aa 337–444UCSCPAS domain

Gene Aliases

HGNC Name

basic helix-loop-helix ARNT like 1

HGNC Previous Symbol

ARNTL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297719.2
p.S90I
c.269G>T
Surrounding Variants
1 paper
NM_001297719.2
p.M88I
c.264G>A
1 paper
NM_001297719.2
p.M88I
c.264G>C
1 paper
NM_001297719.2
p.M88I
c.264G>T
2 papers
NM_001297719.2
p.R85Q
c.254G>A
1 paper
NM_001297719.2
p.R85L
c.254G>T
1 paper
NM_001297719.2
p.R84H
c.251G>A
1 paper
NM_001297719.2
p.R84C
c.250C>T
1 paper
NM_001297719.2
p.S97F
c.290C>T
1 paper
NM_001297719.2
p.R83Q
c.248G>A
1 paper
NM_001297719.2
p.L98*
c.293T>A
1 paper
NM_001297719.2
p.V99_P100insFs
c.297_298insT
1 paper
NM_001297719.2
p.I80F
c.238A>T
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