Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41

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
1–12 of 65 variants
13 papers
NM_030762.3
p.P384R
c.1151C>G
7 papers
NM_030762.3
p.A298V
c.893C>T
4 papers
NM_030762.3
p.Y362H
c.1084T>C
2 papers
NM_030762.3
p.S289_G292del0
c.865_876del12
2 papers
NM_030762.3
p.D368V
c.1103A>T
2 papers
NM_030762.3
p.A411del1
c.1231_1232delCGC
2 papers
NM_030762.3
p.A428T
c.1282G>A
1 paper
NM_030762.3
p.M1T
c.2T>C
1 paper
NM_030762.3
p.L27L
c.81G>A
1 paper
NM_030762.3
p.P48A
c.142C>G
1 paper
NM_030762.3
p.R50I
c.149G>T
1 paper
NM_030762.3
p.R57K
c.170G>A
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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."