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.R42R

c.126G>C

Surrounding Variants

1 paper

NM_139058.3

p.M41R

c.122T>G

1 paper

NM_139058.3

p.M41fs

c.121_122fs

1 paper

NM_139058.3

p.A46V

c.137C>T

1 paper

NM_139058.3

p.P38L

c.113C>T

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.S49C

c.145A>T

1 paper

NM_139058.3

p.S49G

c.145A>G

3 papers

NM_139058.3

p.G34R

c.100G>C

1 paper

NM_139058.3

p.P51R

c.152C>G