Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.N64I

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
3 papers
NM_003865.3
p.N64I
c.191A>T
Surrounding Variants
2 papers
NM_003865.3
p.H61H
c.183T>C
5 papers
NM_003865.3
p.S67T
c.200G>C
1 paper
NM_003865.3
p.P72S
c.214C>T
4 papers
NM_003865.3
p.S73N
c.218G>A
3 papers
NM_003865.3
p.S73S
c.219C>T
3 papers
NM_003865.3
p.V75L
c.223G>T
3 papers
NM_003865.3
p.V75L
c.223G>C
1 paper
NM_003865.3
p.V75A
c.224T>C
1 paper
NM_003865.3
p.H77Y
c.229C>T
2 papers
NM_003865.3
p.V74_M79delFs
c.221_236del16
1 paper
NM_003865.3
p.P80A
c.238C>G
1 paper
NM_003865.3
p.V75_P80insFs
c.224_240dup17
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."