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.Q4Q

c.12G>A

Surrounding Variants

1 paper

NM_139058.3

p.Q4L

c.11A>T

1 paper

NM_139058.3

p.Q6K

c.16C>A

2 papers

NM_139058.3

p.S2insFs

c.4dupA

1 paper

NM_139058.3

p.S2C

c.4A>T

2 papers

NM_139058.3

p.M1insFs

c.3dupG

1 paper

NM_139058.3

p.M1I

c.3G>C

1 paper

NM_139058.3

p.M1delFs

c.2delA

2 papers

NM_139058.3

p.M1insFs

c.1dupA

1 paper

NM_139058.3

p.M1T

c.2T>C

3 papers

NM_139058.3

p.M1V

c.1A>G

3 papers

NM_139058.3

p.E8insFs

c.24dupG

1 paper

NM_139058.3

p.C10insFs

c.29_30insA