Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.G53Splc

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.G53Splc
c.157+2T>C
Surrounding Variants
1 paper
NM_003865.3
p.G53Splc
c.157+2T>G
1 paper
NM_003865.3
p.G53Splc
c.157+2T>A
1 paper
NM_003865.3
p.G53Splc
c.157+1G>A
1 paper
NM_003865.3
p.S50_S51delFs
c.150_153del4
1 paper
NM_003865.3
p.S50_S51delFs
c.150_151delAG
2 papers
NM_003865.3
p.T48S
c.143C>G
4 papers
NM_003865.3
p.T48S
c.142A>T
2 papers
NM_003865.3
p.W45*
c.134G>A
1 paper
NM_003865.3
p.P44insFs
c.131_132insC
2 papers
NM_003865.3
p.P44R
c.131C>G
1 paper
NM_003865.3
p.R43T
c.128G>C
1 paper
NM_003865.3
p.R43W
c.127A>T
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