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

2 papers

NM_139058.3

p.A152insFs

c.454dupG

Surrounding Variants

1 paper

NM_139058.3

p.G143_A151insFs

c.428_452dup25

1 paper

NM_139058.3

p.A152T

c.454G>A

2 papers

NM_139058.3

p.A151del1

c.451_452delCGC

2 papers

NM_139058.3

p.A147_A152del0

c.441_455del15

2 papers

NM_139058.3

p.D140_A151delFs

c.420_451del32

8 papers

NM_139058.3

p.A152insFs

c.455dupC

3 papers

NM_139058.3

p.A151insFs

c.452dupC

1 paper

NM_139058.3

p.A151delFs

c.452delG

34 papers

NM_139058.3

p.A151insFs

c.451dupG

19 papers

NM_139058.3

p.G143_A151ins3

c.428_451dup24

2 papers

NM_139058.3

p.A151_A153ins1

c.453_458dup6

7 papers

NM_139058.3

p.G141_A152ins4

c.423_455dup33