Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41
Variant:p.A300V

BHLHE41

74 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOC...

Pfam Domains

HLHaa 45–100UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 130–171UCSCHairy Orange

Gene Aliases

HGNC Name

basic helix-loop-helix family member e41

HGNC Previous Symbol

BHLHB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030762.3
p.A300V
c.899C>T
Surrounding Variants
1 paper
NM_030762.3
p.P293_A301delFs
c.878_903del26
7 papers
NM_030762.3
p.A298V
c.893C>T
1 paper
NM_030762.3
p.G306E
c.917G>A
1 paper
NM_030762.3
p.P293fs
c.877_878fs
2 papers
NM_030762.3
p.S289_G292del0
c.865_876del12
1 paper
NM_030762.3
p.A311V
c.932C>T
1 paper
NM_030762.3
p.G306_L316ins3
c.916_948dup33
1 paper
NM_030762.3
p.A321T
c.961G>A
1 paper
NM_030762.3
p.A276E
c.827C>A
1 paper
NM_030762.3
p.F351_C352del1
c.1052_1054delAGA
1 paper
NM_030762.3
p.F351_C352del2
c.1051_1055del6
1 paper
NM_030762.3
p.E245A
c.734A>C
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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."