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.A270T

c.808G>A

Surrounding Variants

1 paper

NM_139058.3

p.V268A

c.803T>C

1 paper

NM_139058.3

p.V268L

c.802G>T

1 paper

NM_139058.3

p.V268L

c.802G>C

1 paper

NM_139058.3

p.T271_G272delFs

c.813_814delCA

1 paper

NM_139058.3

p.C266R

c.796T>C

4 papers

NM_139058.3

p.R264fs

c.790_791fs

1 paper

NM_139058.3

p.R264Q

c.791G>A

9 papers

NM_139058.3

p.R264delFs

c.790delG

2 papers

NM_139058.3

p.R264W

c.790C>T

1 paper

NM_139058.3

p.P263T

c.787C>A

1 paper

NM_139058.3

p.E262G

c.785A>G

1 paper

NM_139058.3

p.A278T

c.832G>A