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.E61*

c.181G>T

Surrounding Variants

1 paper

NM_139058.3

p.A63T

c.187G>A

1 paper

NM_139058.3

p.V64M

c.190G>A

1 paper

NM_139058.3

p.Q65R

c.194A>G

4 papers

NM_139058.3

p.G66S

c.196G>A

1 paper

NM_139058.3

p.S56G

c.166A>G

1 paper

NM_139058.3

p.G66Splc

c.196+1G>T

8 papers

NM_139058.3

p.G66Splc

c.196+2T>C

1 paper

NM_139058.3

p.L54insFs

c.161dupT

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.G66Splc

c.196+6G>A

1 paper

NM_139058.3

p.P53R

c.158C>G