Varaico: Literature-Extracted Genetic Variants

Gene:HES7
Variant:p.I58V

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
8 papers
NM_001165967.2
p.I58V
c.172A>G
Surrounding Variants
1 paper
NM_001165967.2
p.L59L
c.175T>C
1 paper
NM_001165967.2
p.A56G
c.167C>G
1 paper
NM_001165967.2
p.K55_A56insT
c.163_167ins3
1 paper
NM_001165967.2
p.A76Splc
c.226+1G>A
1 paper
NM_001165967.2
p.V82I
c.244G>A
1 paper
NM_001165967.2
p.A90A
c.270C>T
1 paper
NM_001165967.2
p.E91insFs
c.271dupG
1 paper
NM_001165967.2
p.L108L
c.324G>A
1 paper
NM_001165967.2
p.A115A
c.345C>G
1 paper
NM_001165967.2
p.A121P
c.361G>C
1 paper
NM_001165967.2
p.Q122*
c.364C>T
1 paper
NM_001165967.2
p.R132fs
c.394_395fs
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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."