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.S319*

c.956C>A

Surrounding Variants

1 paper

NM_139058.3

p.A315_G316delFs

c.945_948del4

1 paper

NM_139058.3

p.G316delFs

c.947delC

1 paper

NM_139058.3

p.G316R

c.946G>C

1 paper

NM_139058.3

p.A315S

c.943G>T

1 paper

NM_139058.3

p.C312_L313insFs

c.936_937insT

1 paper

NM_139058.3

p.Q328fs

c.982_983fs

1 paper

NM_139058.3

p.S310S

c.930C>T

1 paper

NM_139058.3

p.Q328Fs

c.982delinsTTTFs

1 paper

NM_139058.3

p.S310_V311insFs

c.930_931insG

1 paper

NM_139058.3

p.K327_Q328delFs

c.980_983del4

4 papers

NM_139058.3

p.R330L

c.989G>T

5 papers

NM_139058.3

p.R330H

c.989G>A