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

21 papers

NM_139058.3

p.T333N

c.998C>A

Surrounding Variants

3 papers

NM_139058.3

p.T333S

c.998C>G

3 papers

NM_139058.3

p.T333S

c.997A>T

1 paper

NM_139058.3

p.T333_T334insG

c.997_1001ins3

1 paper

NM_139058.3

p.T333_T334insGCG

c.997_1001ins9

5 papers

NM_139058.3

p.R332L

c.995G>T

17 papers

NM_139058.3

p.R332P

c.995G>C

27 papers

NM_139058.3

p.R332H

c.995G>A

1 paper

NM_139058.3

p.T334T

c.1002G>T

16 papers

NM_139058.3

p.R332C

c.994C>T

1 paper

NM_139058.3

p.R332G

c.994C>G

1 paper

NM_139058.3

p.R332S

c.994C>A

2 papers

NM_139058.3

p.F335L

c.1003T>C