Varaico: Literature-Extracted Genetic Variants

PAX3

499 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical ...

Pfam Domains

PAXaa 34–159UCSC'Paired box' domain

Homeodomainaa 220–276UCSCHomeodomain

Pax7aa 347–391UCSCPaired box protein 7

Gene Aliases

HGNC Name

paired box 3

HGNC Previous Symbol

WS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181458.4

p.A298A

c.894C>G

Surrounding Variants

1 paper

NM_181458.4

p.M299K

c.896T>A

1 paper

NM_181458.4

p.A298S

c.892G>T

1 paper

NM_181458.4

p.T297fs

c.889_890fs

1 paper

NM_181458.4

p.T297fs

c.889_890fs

1 paper

NM_181458.4

p.P296A

c.886C>G

1 paper

NM_181458.4

p.P295delFs

c.885delA

1 paper

NM_181458.4

p.F294fs

c.880_881fs

2 papers

NM_181458.4

p.G293insFs

c.879dupG

1 paper

NM_181458.4

p.G293delFs

c.879delC

1 paper

NM_181458.4

p.F294fs

c.880_881fs

1 paper

NM_001127366.3

p.G292fs

c.874_875fs

1 paper

NM_001127366.3

p.P290_G291insFs

c.870_871insC