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.C10*

c.30C>A

Surrounding Variants

1 paper

NM_139058.3

p.C10insFs

c.29_30insA

3 papers

NM_139058.3

p.E8insFs

c.24dupG

2 papers

NM_139058.3

p.E12*

c.34G>T

1 paper

NM_139058.3

p.R13K

c.38G>A

1 paper

NM_139058.3

p.E15*

c.43G>T

1 paper

NM_139058.3

p.Q6K

c.16C>A

1 paper

NM_139058.3

p.Q4Q

c.12G>A

1 paper

NM_139058.3

p.Q4L

c.11A>T

1 paper

NM_139058.3

p.S18C

c.52A>T

1 paper

NM_139058.3

p.S18insFs

c.52_53insT

1 paper

NM_139058.3

p.K17insFs

c.51dupA

2 papers

NM_139058.3

p.S2insFs

c.4dupA