Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.Q6H

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
31 papers
NM_003865.3
p.Q6H
c.18G>C
Surrounding Variants
28 papers
NM_003865.3
p.Q6H
c.18G>T
1 paper
NM_003865.3
p.Q6Q
c.18G>A
1 paper
NM_003865.3
p.E7insFs
c.19_20insA
1 paper
NM_003865.3
p.S2_S4del3
c.4_11del9
2 papers
NM_003865.3
p.A9T
c.25G>A
3 papers
NM_003865.3
p.A9A
c.27T>C
1 paper
NM_003865.3
p.Q10P
c.29A>C
1 paper
NM_003865.3
p.M1_S2del1
c.2_4delACA
1 paper
NM_003865.3
p.M1_S2insFs
c.3_4insA
2 papers
NM_003865.3
p.M1insFs
c.1dupA
1 paper
NM_003865.3
p.M1R
c.2T>G
4 papers
NM_003865.3
p.M1T
c.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."