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

2 papers

NM_139058.3

p.G143insFs

c.428dupG

Surrounding Variants

1 paper

NM_139058.3

p.A144T

c.430G>A

1 paper

NM_139058.3

p.A145T

c.433G>A

1 paper

NM_139058.3

p.A145fs

c.433_434fs

1 paper

NM_139058.3

p.G143E

c.428G>A

1 paper

NM_139058.3

p.A145G

c.434C>G

1 paper

NM_139058.3

p.A145insFs

c.433dupG

1 paper

NM_139058.3

p.A144_A146insFs

c.430_436dup7

1 paper

NM_139058.3

p.A147P

c.439G>C

4 papers

NM_139058.3

p.G141fs

c.421_422fs

1 paper

NM_139058.3

p.G141D

c.422G>A

1 paper

NM_139058.3

p.A147delFs

c.439_440delGC

1 paper

NM_139058.3

p.D140fs

c.418_419fs