Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.E597K

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.E597K
c.1789G>A
Surrounding Variants
1 paper
NM_001297719.2
p.M604L
c.1810A>C
1 paper
NM_001297719.2
p.M604L
c.1810A>T
1 paper
NM_001297719.2
p.S590T
c.1768T>A
2 papers
NM_001297719.2
p.F619Y
c.1856T>A
2 papers
NM_001297719.2
p.P625A
c.1873C>G
1 paper
NM_001297719.2
p.P535delFs
c.1604delC
1 paper
NM_001297719.2
p.R508Splc
c.1524-3C>A
1 paper
NM_001297719.2
p.E501K
c.1501G>A
1 paper
NM_001297719.2
p.T480fs
c.1438_1439fs
2 papers
NM_001297719.2
p.P479insFs
c.1437dupC
1 paper
NM_001297719.2
p.E471E
c.1413A>G
1 paper
NM_001297719.2
p.D464insFs
c.1392dupC
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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."