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.P131fs

c.391_392fs

Surrounding Variants

1 paper

NM_139058.3

p.T132I

c.395C>T

1 paper

NM_139058.3

p.E137D

c.411A>T

1 paper

NM_139058.3

p.E137D

c.411A>C

1 paper

NM_139058.3

p.G123del1

c.367_368delCCC

1 paper

NM_139058.3

p.E124*

c.370G>T

1 paper

NM_139058.3

p.A112_G123delFs

c.335_368del34

1 paper

NM_139058.3

p.D140Y

c.418G>T

1 paper

NM_139058.3

p.D140fs

c.418_419fs

1 paper

NM_139058.3

p.R122H

c.365G>A

1 paper

NM_139058.3

p.G141D

c.422G>A

1 paper

NM_139058.3

p.R122C

c.364C>T

4 papers

NM_139058.3

p.G141fs

c.421_422fs