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.P185Q

c.554C>A

Surrounding Variants

1 paper

NM_139058.3

p.P185L

c.554C>T

1 paper

NM_139058.3

p.P185S

c.553C>T

1 paper

NM_139058.3

p.P185_P187Fs

c.554_559delinsTGTGFs

2 papers

NM_139058.3

p.P186_P187ins0

c.558_560dupGCC

1 paper

NM_139058.3

p.A188A

c.564G>A

1 paper

NM_139058.3

p.L189L

c.565C>T

1 paper

NM_139058.3

p.A180V

c.539C>T

1 paper

NM_139058.3

p.G179E

c.536G>A

1 paper

NM_139058.3

p.S174S

c.522G>T

1 paper

NM_139058.3

p.G196R

c.586G>C

1 paper

NM_139058.3

p.S174S

c.522G>C

1 paper

NM_139058.3

p.G196R

c.586G>A