Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE40
Variant:p.R151W

BHLHE40

63 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 53–108UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 141–180UCSCHairy Orange

Gene Aliases

HGNC Name

basic helix-loop-helix family member e40

HGNC Previous Symbols

STRA13; BHLHB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003670.3
p.R151W
c.451C>T
Surrounding Variants
1 paper
NM_003670.3
p.R151Q
c.452G>A
1 paper
NM_003670.3
p.K159R
c.476A>G
1 paper
NM_003670.3
p.E203K
c.607G>A
1 paper
NM_003670.3
p.P205L
c.614C>T
1 paper
NM_003670.3
p.G211G
c.633T>C
1 paper
NM_003670.3
p.K217E
c.649A>G
1 paper
NM_003670.3
p.S235S
c.705C>T
1 paper
NM_003670.3
p.T239M
c.716C>T
1 paper
NM_003670.3
p.T239T
c.717G>A
1 paper
NM_003670.3
p.L254L
c.760T>C
1 paper
NM_003670.3
p.C260F
c.779G>T
1 paper
NM_003670.3
p.K279R
c.836A>G
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