Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.P16L

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.P16L
c.47C>T
Surrounding Variants
1 paper
NM_003865.3
p.P16P
c.48C>G
1 paper
NM_003865.3
p.P16P
c.48C>A
1 paper
NM_003865.3
p.T18S
c.53C>G
1 paper
NM_003865.3
p.G12E
c.35G>A
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.F21L
c.61T>C
1 paper
NM_003865.3
p.S20delFs
c.60delG
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.Q10P
c.29A>C
1 paper
NM_003865.3
p.S22S
c.66A>T
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