Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41
Variant:p.A380S

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.A380S
c.1138G>T
Surrounding Variants
13 papers
NM_030762.3
p.P384R
c.1151C>G
1 paper
NM_030762.3
p.P384Q
c.1151C>A
1 paper
NM_030762.3
p.K374T
c.1121A>C
2 papers
NM_030762.3
p.D368V
c.1103A>T
1 paper
NM_030762.3
p.I392I
c.1176C>T
1 paper
NM_030762.3
p.P393A
c.1177C>G
1 paper
NM_030762.3
p.Y362Y
c.1086C>T
1 paper
NM_030762.3
p.A397G
c.1190C>G
4 papers
NM_030762.3
p.Y362H
c.1084T>C
1 paper
NM_030762.3
p.F351_C352del2
c.1051_1055del6
1 paper
NM_030762.3
p.F351_C352del1
c.1052_1054delAGA
1 paper
NM_030762.3
p.A410_A411del1
c.1230_1232delGCG
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."