Varaico: Literature-Extracted Genetic Variants

Gene:HES1
Variant:p.L65P

HES1

93 papers

RefSeq Summary

This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a pa...

Pfam Domains

HLHaa 35–92UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 109–148UCSCHairy Orange

Gene Aliases

HGNC Name

hes family bHLH transcription factor 1

HGNC Previous Symbol

HRY

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005524.4
p.L65P
c.194T>C
Surrounding Variants
1 paper
NM_005524.4
p.D68Y
c.202G>T
1 paper
NM_005524.4
p.Q56_L62del0
c.168_185del18
1 paper
NM_005524.4
p.L54L
c.162G>T
1 paper
NM_005524.4
p.E52K
c.154G>A
1 paper
NM_005524.4
p.A48P
c.142G>C
1 paper
NM_005524.4
p.R46*
c.136C>T
1 paper
NM_005524.4
p.E43A
c.128A>C
1 paper
NM_005524.4
p.M42delFs
c.126delG
1 paper
NM_005524.4
p.T23A
c.67A>G
1 paper
NM_005524.4
p.V21I
c.61G>A
1 paper
NM_005524.4
p.V21L
c.61G>C
1 paper
NM_005524.4
p.S70*
c.209C>A
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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."