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.E308G

c.923A>G

Surrounding Variants

1 paper

NM_139058.3

p.E308*

c.922G>T

1 paper

NM_139058.3

p.S310S

c.930C>T

1 paper

NM_139058.3

p.S310_V311insFs

c.930_931insG

1 paper

NM_139058.3

p.C312_L313insFs

c.936_937insT

1 paper

NM_139058.3

p.A302_E303insFs

c.905_908dup4

2 papers

NM_139058.3

p.E303fs

c.907_908fs

1 paper

NM_139058.3

p.A302P

c.904G>C

1 paper

NM_139058.3

p.A315S

c.943G>T

1 paper

NM_139058.3

p.G316R

c.946G>C

1 paper

NM_139058.3

p.G316delFs

c.947delC

1 paper

NM_139058.3

p.P299P

c.897G>A

1 paper

NM_139058.3

p.A315_G316delFs

c.945_948del4