Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.E121D

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.E121D
c.363A>C
Surrounding Variants
1 paper
NM_003865.3
p.E121D
c.363A>T
1 paper
NM_003865.3
p.L123S
c.368T>C
1 paper
NM_003865.3
p.I120F
c.358A>T
18 papers
NM_003865.3
p.N125S
c.374A>G
6 papers
NM_003865.3
p.V129I
c.385G>A
1 paper
NM_003865.3
p.N130fs
c.388_389fs
1 paper
NM_003865.3
p.N130S
c.389A>G
3 papers
NM_003865.3
p.P133T
c.397C>A
1 paper
NM_003865.3
p.V129_Y132delFs
c.387_396del10
3 papers
NM_003865.3
p.G134_I135insFs
c.402_403insC
1 paper
NM_003865.3
p.I135_D136insFs
c.405_406insCT
2 papers
NM_003865.3
p.D136N
c.406G>A
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