Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41
Variant:p.A411del1

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
2 papers
NM_030762.3
p.A411del1
c.1231_1232delCGC
Surrounding Variants
1 paper
NM_030762.3
p.A411ins1
c.1232_1233insCGC
1 paper
NM_030762.3
p.A410_A411del1
c.1230_1232delGCG
1 paper
NM_030762.3
p.C414*
c.1242C>A
1 paper
NM_030762.3
p.P423L
c.1268C>T
1 paper
NM_030762.3
p.A397G
c.1190C>G
2 papers
NM_030762.3
p.A428T
c.1282G>A
1 paper
NM_030762.3
p.P393A
c.1177C>G
1 paper
NM_030762.3
p.I392I
c.1176C>T
1 paper
NM_030762.3
p.T432S
c.1294A>T
1 paper
NM_030762.3
p.T432S
c.1295C>G
13 papers
NM_030762.3
p.P384R
c.1151C>G
1 paper
NM_030762.3
p.P384Q
c.1151C>A
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