Varaico: Literature-Extracted Genetic Variants

Gene:HES7
Variant:p.V2A

HES7

42 papers

RefSeq Summary

This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcri...

Pfam Domains

HLHaa 14–70UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

hes family bHLH transcription factor 7

HGNC Alias Symbol

bHLHb37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001165967.2
p.V2A
c.5T>C
Surrounding Variants
1 paper
NM_001165967.2
p.K14_M15Splc
c.43-9T>A
1 paper
NM_001165967.2
p.P18T
c.52C>A
1 paper
NM_001165967.2
p.L19insFs
c.55_56insT
1 paper
NM_001165967.2
p.L19insFs
c.55_56insC
11 papers
NM_001165967.2
p.R25W
c.73C>T
3 papers
NM_001165967.2
p.N29S
c.86A>G
1 paper
NM_001165967.2
p.L37L
c.111G>A
1 paper
NM_001165967.2
p.E41E
c.123G>A
1 paper
NM_001165967.2
p.T43fs
c.127_128fs
3 papers
NM_001165967.2
p.R42delFs
c.126delC
1 paper
NM_001165967.2
p.T43fs
c.127_128fs
1 paper
NM_001165967.2
p.T43_Q46delFs
c.128_137del10
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."