Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.E88_N89insFs

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.E88_N89insFs
c.264_265insC
Surrounding Variants
1 paper
NM_003865.3
p.E95V
c.284A>T
1 paper
NM_003865.3
p.R96I
c.287G>T
1 paper
NM_003865.3
p.V75_P80insFs
c.224_240dup17
1 paper
NM_003865.3
p.R96T
c.287G>C
2 papers
NM_003865.3
p.L97P
c.290T>C
1 paper
NM_003865.3
p.P80A
c.238C>G
2 papers
NM_003865.3
p.V74_M79delFs
c.221_236del16
1 paper
NM_003865.3
p.S98insFs
c.293_294insC
1 paper
NM_003865.3
p.H77Y
c.229C>T
1 paper
NM_003865.3
p.V75A
c.224T>C
1 paper
NM_003865.3
p.E102fs
c.304_305fs
3 papers
NM_003865.3
p.V75L
c.223G>T
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