Varaico: Literature-Extracted Genetic Variants

Gene:HES7
Variant:p.P176S

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
1 paper
NM_001165967.2
p.P176S
c.526C>T
Surrounding Variants
1 paper
NM_001165967.2
p.P168fs
c.502_503fs
1 paper
NM_001165967.2
p.P168delFs
c.503delG
1 paper
NM_001165967.2
p.S186P
c.556T>C
1 paper
NM_001165967.2
p.R188R
c.564C>A
1 paper
NM_001165967.2
p.D191Y
c.571G>T
1 paper
NM_001165967.2
p.L202V
c.604C>G
1 paper
NM_001165967.2
p.P207A
c.619C>G
2 papers
NM_001165967.2
p.D142Y
c.424G>T
4 papers
NM_001165967.2
p.K134_R137insFs
c.400_409dup10
1 paper
NM_001165967.2
p.R137fs
c.409_410fs
1 paper
NM_001165967.2
p.R132fs
c.394_395fs
1 paper
NM_001165967.2
p.Q122*
c.364C>T
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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."