Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.L33P

ARX

415 papers

RefSeq Summary

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. I...

Pfam Domains

Homeodomainaa 329–385UCSCHomeodomain
OARaa 526–544UCSCOAR motif

Gene Aliases

HGNC Name

aristaless related homeobox

HGNC Previous Symbols

MRXS1; PRTS; MRX76; MRX54; MRX43; MRX36; MRX29; MRX32; MRX33; MRX38; MRX87

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
19 papers
NM_139058.3
p.L33P
c.98T>C
Surrounding Variants
3 papers
NM_139058.3
p.G34R
c.100G>C
2 papers
NM_139058.3
p.I32T
c.95T>C
1 paper
NM_139058.3
p.S31R
c.93C>G
1 paper
NM_139058.3
p.S31R
c.93C>A
1 paper
NM_139058.3
p.S31N
c.92G>A
1 paper
NM_139058.3
p.S31R
c.91A>C
2 papers
NM_139058.3
p.D30Y
c.88G>T
1 paper
NM_139058.3
p.I29M
c.87C>G
1 paper
NM_139058.3
p.S37G
c.109A>G
1 paper
NM_139058.3
p.S37T
c.110G>C
2 papers
NM_139058.3
p.S37N
c.110G>A
6 papers
NM_139058.3
p.P38S
c.112C>T
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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."