Varaico: Literature-Extracted Genetic Variants

Gene:HELT

HELT

13 papers

Pfam Domains

HLHaa 12–66UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 86–127UCSCHairy Orange

Gene Aliases

HGNC Name

helt bHLH transcription factor

HGNC Alias Symbols

HESL; HCM1228; Mgn; bHLHb44; MEGANE

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_001300781.2
p.L62V
c.184C>G
1 paper
NM_001300781.2
p.K9_R10Splc
c.27+207C>A
1 paper
NM_001300781.2
p.A81E
c.242C>A
1 paper
NM_001300781.2
p.A116V
c.347C>T
1 paper
NM_001300781.2
p.F176V
c.526T>G
1 paper
NM_001300781.2
p.P180S
c.538C>T
1 paper
NM_001300781.2
p.P192T
c.574C>A
1 paper
NM_001300781.2
p.D216G
c.647A>G
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