Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.E139D

HESX1

216 papers

RefSeq Summary

This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HES...

Pfam Domains

Homeodomainaa 109–165UCSCHomeodomain

Gene Aliases

HGNC Name

HESX homeobox 1

HGNC Alias Symbols

RPX; ANF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003865.3
p.E139D
c.417A>C
Surrounding Variants
1 paper
NM_003865.3
p.E139D
c.417A>T
1 paper
NM_003865.3
p.R138_E139insFs
c.414_415insG
4 papers
NM_003865.3
p.A142T
c.424G>A
1 paper
NM_003865.3
p.Q143*
c.427C>T
1 paper
NM_003865.3
p.I135_D136insFs
c.405_406insCT
2 papers
NM_003865.3
p.D136N
c.406G>A
3 papers
NM_003865.3
p.G134_I135insFs
c.402_403insC
3 papers
NM_003865.3
p.P133T
c.397C>A
1 paper
NM_003865.3
p.V129_Y132delFs
c.387_396del10
1 paper
NM_003865.3
p.E148G
c.443A>G
19 papers
NM_003865.3
p.E149K
c.445G>A
1 paper
NM_003865.3
p.N130S
c.389A>G
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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."