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.S168delFs

c.503_504delGC

Surrounding Variants

1 paper

NM_139058.3

p.S168N

c.503G>A

1 paper

NM_139058.3

p.S170N

c.509G>A

1 paper

NM_139058.3

p.R171R

c.513C>G

1 paper

NM_139058.3

p.S174A

c.520T>G

2 papers

NM_139058.3

p.S174*

c.521C>A

1 paper

NM_139058.3

p.S174S

c.522G>T

1 paper

NM_139058.3

p.S174S

c.522G>C

12 papers

NM_139058.3

p.Q163R

c.488A>G

1 paper

NM_139058.3

p.Q163*

c.487C>T

1 paper

NM_139058.3

p.L159F

c.475C>T

1 paper

NM_139058.3

p.T158_L159delins

c.474_475delinsAT

1 paper

NM_139058.3

p.G179E

c.536G>A