Varaico: Literature-Extracted Genetic Variants

Gene:HESX1

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
1–12 of 150 variants
45 papers
NM_003865.3
p.R160C
c.478C>T
31 papers
NM_003865.3
p.Q6H
c.18G>C
28 papers
NM_003865.3
p.Q6H
c.18G>T
28 papers
NM_003865.3
p.T181A
c.541A>G
26 papers
NM_003865.3
p.I26T
c.77T>C
23 papers
NM_003865.3
p.S170L
c.509C>T
19 papers
NM_003865.3
p.E149K
c.445G>A
18 papers
NM_003865.3
p.N125S
c.374A>G
12 papers
NM_003865.3
p.R160H
c.479G>A
10 papers
NM_003865.3
p.L103insFs
c.307_308insAG
10 papers
NM_003865.3
p.Q117P
c.350A>C
10 papers
NM_003865.3
p.Q119_I120Splc
c.357+2T>C
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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."