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.V198_T199insFs

c.594_597dup4

Surrounding Variants

1 paper

NM_139058.3

p.P201S

c.601C>T

1 paper

NM_139058.3

p.H200L

c.599A>T

1 paper

NM_139058.3

p.E203D

c.609G>T

1 paper

NM_139058.3

p.E203D

c.609G>C

1 paper

NM_139058.3

p.R204C

c.610C>T

2 papers

NM_139058.3

p.R204S

c.610C>A

2 papers

NM_139058.3

p.R204H

c.611G>A

1 paper

NM_139058.3

p.G197delFs

c.590delC

1 paper

NM_139058.3

p.G197D

c.590G>A

1 paper

NM_139058.3

p.R204R

c.612C>T

1 paper

NM_139058.3

p.G196R

c.586G>C

1 paper

NM_139058.3

p.G206S

c.616G>A