Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.L27I

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.L27I
c.79T>A
Surrounding Variants
26 papers
NM_003865.3
p.I26T
c.77T>C
3 papers
NM_003865.3
p.I23T
c.68T>C
1 paper
NM_003865.3
p.E24_D30delFs
c.70_89del20
1 paper
NM_003865.3
p.S22S
c.66A>T
1 paper
NM_003865.3
p.F21L
c.63T>G
1 paper
NM_003865.3
p.F21L
c.63T>A
1 paper
NM_003865.3
p.F21L
c.61T>C
1 paper
NM_003865.3
p.S20delFs
c.60delG
1 paper
NM_003865.3
p.K33Q
c.97A>C
4 papers
NM_003865.3
p.S20_F21insFs
c.60_61insG
1 paper
NM_003865.3
p.S20fs
c.58_59fs
1 paper
NM_003865.3
p.D34delFs
c.100delC
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