Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.L103insFs

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
10 papers
NM_003865.3
p.L103insFs
c.307_308insAG
Surrounding Variants
7 papers
NM_003865.3
p.E102delFs
c.305_306delCT
1 paper
NM_003865.3
p.L103*
c.308T>A
7 papers
NM_003865.3
p.E102_L103insFs
c.306_307insAG
1 paper
NM_003865.3
p.E102G
c.305A>G
1 paper
NM_003865.3
p.E102fs
c.304_305fs
1 paper
NM_003865.3
p.S104G
c.310A>G
1 paper
NM_003865.3
p.S98insFs
c.293_294insC
2 papers
NM_003865.3
p.L97P
c.290T>C
7 papers
NM_003865.3
p.R109*
c.325C>T
1 paper
NM_003865.3
p.R109G
c.325C>G
1 paper
NM_003865.3
p.R109L
c.326G>T
8 papers
NM_003865.3
p.R109Q
c.326G>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."