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.G286D

c.857G>A

Surrounding Variants

13 papers

NM_139058.3

p.G286S

c.856G>A

1 paper

NM_139058.3

p.G287R

c.859G>C

1 paper

NM_139058.3

p.G287R

c.859G>A

1 paper

NM_139058.3

p.E288delFs

c.862delC

1 paper

NM_139058.3

p.A280_A283del4

c.838_848del12

1 paper

NM_139058.3

p.L289insFs

c.865_866insA

1 paper

NM_139058.3

p.L289insFs

c.866_867insG

1 paper

NM_139058.3

p.A280_A283delFs

c.838_847del10

4 papers

NM_139058.3

p.S290*

c.869C>G

4 papers

NM_139058.3

p.S290*

c.869C>A

1 paper

NM_139058.3

p.A280P

c.838G>C

1 paper

NM_139058.3

p.A278_A279insFs

c.834_835insA