Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.D145N

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
2 papers
NM_001297719.2
p.D145N
c.433G>A
Surrounding Variants
1 paper
NM_001297719.2
p.D145E
c.435T>A
1 paper
NM_001297719.2
p.D145E
c.435T>G
1 paper
NM_001297719.2
p.T140S
c.419C>G
1 paper
NM_001297719.2
p.T140S
c.418A>T
1 paper
NM_001297719.2
p.K138I
c.413A>T
1 paper
NM_001297719.2
p.V119D
c.356T>A
1 paper
NM_001297719.2
p.A118V
c.353C>T
1 paper
NM_001297719.2
p.L115L
c.345A>T
1 paper
NM_001297719.2
p.L112R
c.335T>G
2 papers
NM_001297719.2
p.D110Y
c.328G>T
2 papers
NM_001297719.2
p.A104T
c.310G>A
1 paper
NM_001297719.2
p.V99_P100insFs
c.297_298insT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."