Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.F15L

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.F15L
c.43T>C
Surrounding Variants
1 paper
NM_001297719.2
p.F15Y
c.44T>A
1 paper
NM_001297719.2
p.F15L
c.45C>A
1 paper
NM_001297719.2
p.F15L
c.45C>G
2 papers
NM_001297719.2
p.S13T
c.38G>C
1 paper
NM_001297719.2
p.S17S
c.51C>T
1 paper
NM_001297719.2
p.I12V
c.34A>G
1 paper
NM_001297719.2
p.T11_I12insA
c.31_35ins3
1 paper
NM_001297719.2
p.S10L
c.29C>T
1 paper
NM_001297719.2
p.P20S
c.58C>T
1 paper
NM_001297719.2
p.T21I
c.62C>T
2 papers
NM_001297719.2
p.D22N
c.64G>A
1 paper
NM_001297719.2
p.M6I
c.18G>A
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