Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.F115L

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.F115L
c.345T>G
Surrounding Variants
1 paper
NM_003865.3
p.F115L
c.345T>A
1 paper
NM_003865.3
p.F115L
c.343T>C
1 paper
NM_003865.3
p.Q117*
c.349C>T
1 paper
NM_003865.3
p.Q117R
c.350A>G
10 papers
NM_003865.3
p.Q117P
c.350A>C
1 paper
NM_003865.3
p.R112K
c.335G>A
1 paper
NM_003865.3
p.R112*
c.334A>T
10 papers
NM_003865.3
p.Q119_I120Splc
c.357+2T>C
1 paper
NM_003865.3
p.Q119_I120Splc
c.357+2T>A
1 paper
NM_003865.3
p.P111T
c.331C>A
3 papers
NM_003865.3
p.Q119_I120Splc
c.357+3G>A
1 paper
NM_003865.3
p.Q119_I120Splc
c.357+5G>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."