Varaico: Literature-Extracted Genetic Variants

Gene:HES5
Variant:p.A154_A155del1

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.A154_A155del1
c.462_464delGCG
Surrounding Variants
1 paper
NM_001010926.4
p.A154_A155del2
c.460_464del6
1 paper
NM_001010926.4
p.P158S
c.472C>T
1 paper
NM_001010926.4
p.A146V
c.437C>T
1 paper
NM_001010926.4
p.W94L
c.281G>T
1 paper
NM_001010926.4
p.S93W
c.278C>G
1 paper
NM_001010926.4
p.P81R
c.242C>G
1 paper
NM_001010926.4
p.A79A
c.237C>A
1 paper
NM_001010926.4
p.A77V
c.230C>T
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.M64R
c.191T>G
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