Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.T181A

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
28 papers
NM_003865.3
p.T181A
c.541A>G
Surrounding Variants
1 paper
NM_003865.3
p.N178fs
c.532_533fs
2 papers
NM_003865.3
p.N178delFs
c.533delT
2 papers
NM_003865.3
p.N178fs
c.532_533fs
2 papers
NM_003865.3
p.K177T
c.530A>C
1 paper
NM_003865.3
p.K177*
c.529A>T
8 papers
NM_003865.3
p.K176T
c.527A>C
2 papers
NM_003865.3
p.A175delFs
c.525delC
3 papers
NM_003865.3
p.A175A
c.525G>A
1 paper
NM_003865.3
p.M174I
c.522G>A
1 paper
NM_003865.3
p.L173_M174insFs
c.519_520insA
1 paper
NM_003865.3
p.M174V
c.520A>G
1 paper
NM_003865.3
p.Q171Q
c.513G>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."