Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.P292T

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.P292T
c.874C>A
Surrounding Variants
1 paper
NM_001297719.2
p.T294S
c.880A>T
1 paper
NM_001297719.2
p.K295R
c.884A>G
1 paper
NM_001297719.2
p.G297_L298insT
c.889_893ins3
1 paper
NM_001297719.2
p.D299Y
c.895G>T
1 paper
NM_001297719.2
p.C280Y
c.839G>A
1 paper
NM_001297719.2
p.A274Splc
c.821-1G>C
1 paper
NM_001297719.2
p.A274Splc
c.821-17C>T
1 paper
NM_001297719.2
p.G331_E332del1
c.992_994delGGG
1 paper
NM_001297719.2
p.Y340delFs
c.1019_1020delAT
1 paper
NM_001297719.2
p.A345T
c.1033G>A
1 paper
NM_001297719.2
p.S372L
c.1115C>T
1 paper
NM_001297719.2
p.E375G
c.1124A>G
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