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.S31R

c.93C>G

Surrounding Variants

1 paper

NM_139058.3

p.S31R

c.93C>A

1 paper

NM_139058.3

p.S31N

c.92G>A

2 papers

NM_139058.3

p.I32T

c.95T>C

1 paper

NM_139058.3

p.S31R

c.91A>C

19 papers

NM_139058.3

p.L33P

c.98T>C

2 papers

NM_139058.3

p.D30Y

c.88G>T

1 paper

NM_139058.3

p.I29M

c.87C>G

3 papers

NM_139058.3

p.G34R

c.100G>C

1 paper

NM_139058.3

p.C28*

c.84C>A

9 papers

NM_139058.3

p.Y27*

c.81C>G

9 papers

NM_139058.3

p.Y27*

c.81C>A

1 paper

NM_139058.3

p.S26S

c.78C>T