Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE41
Variant:p.A192T

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.A192T
c.574G>A
Surrounding Variants
1 paper
NM_030762.3
p.T190I
c.569C>T
1 paper
NM_030762.3
p.V184I
c.550G>A
1 paper
NM_030762.3
p.P213S
c.637C>T
1 paper
NM_030762.3
p.Q225R
c.674A>G
1 paper
NM_030762.3
p.P157Q
c.470C>A
1 paper
NM_030762.3
p.R155M
c.464G>T
1 paper
NM_030762.3
p.A228fs
c.682_683fs
1 paper
NM_030762.3
p.F149L
c.447T>G
1 paper
NM_030762.3
p.F149L
c.447T>A
1 paper
NM_030762.3
p.F149L
c.445T>C
1 paper
NM_030762.3
p.A228_D235delFs
c.684_705del22
1 paper
NM_030762.3
p.S147A
c.439T>G
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