Varaico: Literature-Extracted Genetic Variants

Gene:HES5
Variant:p.P52delFs

HES5

33 papers

RefSeq Summary

This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differ...

Pfam Domains

HLHaa 17–73UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 87–124UCSCHairy Orange

Gene Aliases

HGNC Name

hes family bHLH transcription factor 5

HGNC Alias Symbol

bHLHb38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010926.4
p.P52delFs
c.154_155delGG
Surrounding Variants
2 papers
NM_001010926.4
p.L42L
c.126G>T
1 paper
NM_001010926.4
p.M64R
c.191T>G
2 papers
NM_001010926.4
p.M64I
c.192G>T
2 papers
NM_001010926.4
p.M64I
c.192G>C
2 papers
NM_001010926.4
p.M64I
c.192G>A
1 paper
NM_001010926.4
p.R31G
c.91C>G
1 paper
NM_001010926.4
p.A77V
c.230C>T
1 paper
NM_001010926.4
p.A79A
c.237C>A
1 paper
NM_001010926.4
p.P81R
c.242C>G
1 paper
NM_001010926.4
p.R18G
c.52C>G
1 paper
NM_001010926.4
p.S93W
c.278C>G
1 paper
NM_001010926.4
p.W94L
c.281G>T
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