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

23 papers

NM_139058.3

p.G143_A151ins3

c.429_452dup24

Surrounding Variants

4 papers

NM_139058.3

p.A147_A155del0

c.441_464del24

1 paper

NM_139058.3

p.A155insFs

c.464dupC

2 papers

NM_139058.3

p.A150_A152del0

c.448_456del9

2 papers

NM_139058.3

p.A155ins8

c.464_465ins24

1 paper

NM_139058.3

p.A145_A154insFs

c.435_462dup28

6 papers

NM_139058.3

p.A145_A154ins3

c.435_461dup27

2 papers

NM_139058.3

p.A154insFs

c.460dupG

2 papers

NM_139058.3

p.A151_A153ins1

c.453_458dup6

7 papers

NM_139058.3

p.G141_A152ins4

c.423_455dup33

1 paper

NM_139058.3

p.T158A

c.472A>G

8 papers

NM_139058.3

p.A152insFs

c.455dupC

1 paper

NM_139058.3

p.T158M

c.473C>T