Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.C249R

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.C249R
c.745T>C
Surrounding Variants
1 paper
NM_001297719.2
p.F247L
c.741C>A
1 paper
NM_001297719.2
p.S246C
c.737C>G
2 papers
NM_001297719.2
p.R244Q
c.731G>A
1 paper
NM_001297719.2
p.V258E
c.773T>A
2 papers
NM_001297719.2
p.R238Q
c.713G>A
1 paper
NM_001297719.2
p.V260A
c.779T>C
1 paper
NM_001297719.2
p.G235W
c.703G>T
1 paper
NM_001297719.2
p.P234H
c.701C>A
1 paper
NM_001297719.2
p.P227T
c.679C>A
1 paper
NM_001297719.2
p.K271N
c.813G>C
1 paper
NM_001297719.2
p.K271N
c.813G>T
1 paper
NM_001297719.2
p.A274Splc
c.821-17C>T
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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."