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

2 papers

NM_181458.4

p.Q200_S201delFs

c.598_602del5

Surrounding Variants

6 papers

NM_181458.4

p.S201*

c.602C>G

5 papers

NM_181458.4

p.S201*

c.602C>A

1 paper

NM_181458.4

p.S201A

c.601T>G

1 paper

NM_181458.4

p.S201P

c.601T>C

1 paper

NM_181458.4

p.Q200delFs

c.599delT

7 papers

NM_181458.4

p.Q200*

c.598C>T

2 papers

NM_181458.4

p.P199P

c.597C>A

1 paper

NM_181458.4

p.A198A

c.594A>T

2 papers

NM_181458.4

p.A196_A198delFs

c.587_593del7

1 paper

NM_181458.4

p.S205A

c.613T>G

1 paper

NM_181458.4

p.S205T

c.613T>A

3 papers

NM_181458.4

p.A198delFs

c.592delC