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.R122C

c.364C>T

Surrounding Variants

1 paper

NM_139058.3

p.R122H

c.365G>A

1 paper

NM_139058.3

p.A112_G123delFs

c.335_368del34

1 paper

NM_139058.3

p.E124*

c.370G>T

1 paper

NM_139058.3

p.G123del1

c.367_368delCCC

1 paper

NM_139058.3

p.A115del1

c.343_344delGGC

3 papers

NM_139058.3

p.A100_A110ins3

c.298_330dup33

1 paper

NM_139058.3

p.A107_A114del0

c.321_341del21

1 paper

NM_139058.3

p.A112del1

c.334_335delTGC

1 paper

NM_139058.3

p.A112insFs

c.335dupC

1 paper

NM_139058.3

p.A102ins1

c.304_305insGCG

2 papers

NM_139058.3

p.A102ins2

c.304_305ins6

1 paper

NM_139058.3

p.A109_A112ins1

c.327_335dup9