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.P38L

c.113C>T

Surrounding Variants

6 papers

NM_139058.3

p.P38S

c.112C>T

1 paper

NM_139058.3

p.S37T

c.110G>C

2 papers

NM_139058.3

p.S37N

c.110G>A

1 paper

NM_139058.3

p.S37G

c.109A>G

1 paper

NM_139058.3

p.M41fs

c.121_122fs

1 paper

NM_139058.3

p.M41R

c.122T>G

3 papers

NM_139058.3

p.G34R

c.100G>C

1 paper

NM_139058.3

p.R42R

c.126G>C

19 papers

NM_139058.3

p.L33P

c.98T>C

2 papers

NM_139058.3

p.I32T

c.95T>C

1 paper

NM_139058.3

p.S31R

c.93C>G

1 paper

NM_139058.3

p.S31R

c.93C>A