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.L54insFs

c.161dupT

Surrounding Variants

1 paper

NM_139058.3

p.L54Q

c.161T>A

1 paper

NM_139058.3

p.A47_P53del0

c.141_158del18

1 paper

NM_139058.3

p.P53R

c.158C>G

1 paper

NM_139058.3

p.S56G

c.166A>G

1 paper

NM_139058.3

p.A52_P53insT

c.154_158ins3

1 paper

NM_139058.3

p.A52T

c.154G>A

1 paper

NM_139058.3

p.P51R

c.152C>G

1 paper

NM_139058.3

p.S49C

c.145A>T

1 paper

NM_139058.3

p.S49G

c.145A>G

1 paper

NM_139058.3

p.E61*

c.181G>T

1 paper

NM_139058.3

p.A63T

c.187G>A

1 paper

NM_139058.3

p.A46V

c.137C>T