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.A106_A112del0

c.318_335del18

Surrounding Variants

1 paper

NM_139058.3

p.A112insFs

c.335dupC

1 paper

NM_139058.3

p.A102ins1

c.304_305insGCG

2 papers

NM_139058.3

p.A102ins2

c.304_305ins6

1 paper

NM_139058.3

p.A109_A112ins1

c.327_335dup9

1 paper

NM_139058.3

p.A108_A112ins1

c.324_335dup12

4 papers

NM_139058.3

p.A105_A112ins2

c.315_335dup21

1 paper

NM_139058.3

p.A104_A112ins3

c.312_335dup24

1 paper

NM_139058.3

p.A112fs

c.334_335fs

3 papers

NM_139058.3

p.A110del1

c.328_330delCGC

2 papers

NM_139058.3

p.A109_A111del0

c.325_333del9

2 papers

NM_139058.3

p.A108_A112del0

c.324_335del12

1 paper

NM_139058.3

p.A111_A112insFs

c.333_334insG