Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.D150_R151del2

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.D150_R151del2
c.448_452del6
Surrounding Variants
1 paper
NM_003865.3
p.R151K
c.452G>A
9 papers
NM_003865.3
p.D150delFs
c.449_450delGT
1 paper
NM_003865.3
p.D150D
c.450C>T
1 paper
NM_003865.3
p.D150E
c.450C>G
1 paper
NM_003865.3
p.D150E
c.450C>A
1 paper
NM_003865.3
p.Q153_I154Splc
c.459+1G>A
1 paper
NM_003865.3
p.Q153_I154Splc
c.459+2T>G
1 paper
NM_003865.3
p.D150_Q153del4
c.448_458del12
19 papers
NM_003865.3
p.E149K
c.445G>A
1 paper
NM_003865.3
p.E148G
c.443A>G
1 paper
NM_003865.3
p.Q143*
c.427C>T
4 papers
NM_003865.3
p.A142T
c.424G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."