Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.K33Q

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.K33Q
c.97A>C
Surrounding Variants
1 paper
NM_003865.3
p.D34delFs
c.100delC
1 paper
NM_003865.3
p.E24_D30delFs
c.70_89del20
1 paper
NM_003865.3
p.P37R
c.110C>G
1 paper
NM_003865.3
p.L27I
c.79T>A
26 papers
NM_003865.3
p.I26T
c.77T>C
2 papers
NM_003865.3
p.K40*
c.118A>T
1 paper
NM_003865.3
p.K40N
c.120A>T
1 paper
NM_003865.3
p.K40N
c.120A>C
3 papers
NM_003865.3
p.H42Y
c.124C>T
2 papers
NM_003865.3
p.L38_H42delFs
c.112_124del13
3 papers
NM_003865.3
p.I23T
c.68T>C
1 paper
NM_003865.3
p.R43W
c.127A>T
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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."