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.L251_L252del1

c.752_754delGCA

Surrounding Variants

1 paper

NM_139058.3

p.A256P

c.766G>C

1 paper

NM_139058.3

p.R257G

c.769C>G

1 paper

NM_139058.3

p.R257R

c.771C>T

1 paper

NM_139058.3

p.E262G

c.785A>G

1 paper

NM_139058.3

p.P263T

c.787C>A

1 paper

NM_139058.3

p.E242delFs

c.724delC

1 paper

NM_139058.3

p.E242K

c.724G>A

2 papers

NM_139058.3

p.R264W

c.790C>T

1 paper

NM_139058.3

p.E242fs

c.724_725fs

1 paper

NM_139058.3

p.R264Q

c.791G>A

9 papers

NM_139058.3

p.R264delFs

c.790delG

4 papers

NM_139058.3

p.R264fs

c.790_791fs