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.F347L

c.1039T>C

Surrounding Variants

2 papers

NM_139058.3

p.F347V

c.1039T>G

1 paper

NM_139058.3

p.F347L

c.1041C>G

1 paper

NM_139058.3

p.F347L

c.1041C>A

2 papers

NM_139058.3

p.R345P

c.1034G>C

1 paper

NM_139058.3

p.T336_L343delFs

c.1008_1029del22

1 paper

NM_139058.3

p.T350M

c.1049C>T

2 papers

NM_139058.3

p.T350K

c.1049C>A

21 papers

NM_139058.3

p.L343Q

c.1028T>A

2 papers

NM_139058.3

p.P353S

c.1057C>T

1 paper

NM_139058.3

p.Y338_L340insFs

c.1013_1019dup7

38 papers

NM_139058.3

p.P353L

c.1058C>T

18 papers

NM_139058.3

p.P353R

c.1058C>G