Varaico: Literature-Extracted Genetic Variants

Gene:HES4
Variant:p.E129A

HES4

24 papers

Pfam Domains

HLHaa 62–118UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 135–174UCSCHairy Orange

Gene Aliases

HGNC Name

hes family bHLH transcription factor 4

HGNC Alias Symbol

bHLHb42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021170.4
p.E129A
c.386A>C
Surrounding Variants
1 paper
NM_021170.4
p.F124V
c.370T>G
1 paper
NM_021170.4
p.A112P
c.334G>C
1 paper
NM_021170.4
p.Q149R
c.446A>G
1 paper
NM_021170.4
p.R154R
c.462C>A
2 papers
NM_021170.4
p.D103A
c.308A>C
1 paper
NM_021170.4
p.E171insFs
c.512_513insGC
1 paper
NM_021170.4
p.G175S
c.523G>A
1 paper
NM_021170.4
p.L188P
c.563T>C
1 paper
NM_021170.4
p.H87Q
c.261C>G
1 paper
NM_021170.4
p.H87Q
c.261C>A
1 paper
NM_021170.4
p.E82insFs
c.245dupA
1 paper
NM_021170.4
p.D79D
c.237C>T
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