Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.G32R

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.G32R
c.94G>C
Surrounding Variants
1 paper
NM_001297719.2
p.D34D
c.102T>C
1 paper
NM_001297719.2
p.S27Y
c.80C>A
1 paper
NM_001297719.2
p.R37C
c.109C>T
2 papers
NM_001297719.2
p.R37H
c.110G>A
1 paper
NM_001297719.2
p.L24P
c.71T>C
2 papers
NM_001297719.2
p.D22N
c.64G>A
1 paper
NM_001297719.2
p.T21I
c.62C>T
1 paper
NM_001297719.2
p.S43F
c.128C>T
1 paper
NM_001297719.2
p.T44A
c.130A>G
1 paper
NM_001297719.2
p.P20S
c.58C>T
1 paper
NM_001297719.2
p.S17S
c.51C>T
1 paper
NM_001297719.2
p.F15L
c.45C>A
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