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

1–12 of 465 variants

38 papers

NM_139058.3

p.P353L

c.1058C>T

34 papers

NM_139058.3

p.A151insFs

c.451dupG

27 papers

NM_139058.3

p.R332H

c.995G>A

23 papers

NM_139058.3

p.G143_A151ins3

c.429_452dup24

21 papers

NM_139058.3

p.T333N

c.998C>A

21 papers

NM_139058.3

p.L343Q

c.1028T>A

19 papers

NM_139058.3

p.L33P

c.98T>C

19 papers

NM_139058.3

p.G143_A151ins3

c.428_451dup24

18 papers

NM_139058.3

p.P353R

c.1058C>G

17 papers

NM_139058.3

p.R332P

c.995G>C

16 papers

NM_139058.3

p.R332C

c.994C>T

13 papers

NM_139058.3

p.G286S

c.856G>A