Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_139058.3

p.E224insFs

c.671dupA

Surrounding Variants

1 paper

NM_139058.3

p.G222C

c.664G>T

1 paper

NM_139058.3

p.G222S

c.664G>A

1 paper

NM_139058.3

p.E227G

c.680A>G

3 papers

NM_139058.3

p.A216del1

c.646_647delAGC

1 paper

NM_139058.3

p.A216delFs

c.647delG

2 papers

NM_139058.3

p.V207_A216delFs

c.619_647del29

1 paper

NM_139058.3

p.D233G

c.698A>G

2 papers

NM_139058.3

p.A214insFs

c.641_642insC

1 paper

NM_139058.3

p.E234K

c.700G>A

1 paper

NM_139058.3

p.P215R

c.644C>G

2 papers

NM_139058.3

p.E235K

c.703G>A

1 paper

NM_139058.3

p.E235insFs

c.705dupA