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

3 papers

NM_139058.3

p.R332_F335del0

c.996_1004del9

Surrounding Variants

1 paper

NM_139058.3

p.S337T

c.1010G>C

1 paper

NM_139058.3

p.T336S

c.1007C>G

1 paper

NM_139058.3

p.T334_T336Fs

c.1002_1007delinsTGTACCAFs

1 paper

NM_139058.3

p.K327_F335del9

c.979_1004del27

1 paper

NM_139058.3

p.Y338S

c.1013A>C

1 paper

NM_139058.3

p.Y338fs

c.1012_1013fs

2 papers

NM_139058.3

p.L324_F335del12

c.970_1004del36

2 papers

NM_139058.3

p.F335L

c.1005C>G

2 papers

NM_139058.3

p.F335L

c.1005C>A

2 papers

NM_139058.3

p.F335L

c.1003T>C

1 paper

NM_139058.3

p.F335fs

c.1003_1004fs

1 paper

NM_139058.3

p.T334T

c.1002G>T