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.V38fs

c.112_113fs

Surrounding Variants

2 papers

NM_181458.4

p.V38G

c.113T>G

1 paper

NM_181458.4

p.V38delFs

c.112delC

2 papers

NM_181458.4

p.N39Y

c.115A>T

1 paper

NM_181458.4

p.R37insFs

c.111dupC

1 paper

NM_181458.4

p.V38I

c.112G>A

1 paper

NM_181458.4

p.V38fs

c.112_113fs

4 papers

NM_181458.4

p.N39K

c.117C>G

3 papers

NM_181458.4

p.R37insFs

c.110_111insG

1 paper

NM_181458.4

p.R37insFs

c.110_111insGG

1 paper

NM_181458.4

p.R37ins1

c.110_111insGGG

1 paper

NM_181458.4

p.R37fs

c.109_110fs

5 papers

NM_181458.4

p.N39K

c.117C>A