Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41
Variant:p.V88V

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.V88V
c.264C>G
Surrounding Variants
1 paper
NM_030762.3
p.L89L
c.267G>A
1 paper
NM_030762.3
p.V87V
c.261A>T
1 paper
NM_030762.3
p.E90E
c.270A>G
1 paper
NM_030762.3
p.L91L
c.273A>G
1 paper
NM_030762.3
p.G81A
c.242G>C
1 paper
NM_030762.3
p.T78_T79Splc
c.234+2T>C
1 paper
NM_030762.3
p.R57fs
c.169_170fs
1 paper
NM_030762.3
p.R57K
c.170G>A
1 paper
NM_030762.3
p.K55_R57delFs
c.165_169del5
1 paper
NM_030762.3
p.R50I
c.149G>T
1 paper
NM_030762.3
p.P48A
c.142C>G
1 paper
NM_030762.3
p.E117_R118delFs
c.351_352delGC
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