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.Q306E

c.916C>G

Surrounding Variants

1 paper

NM_181458.4

p.Q306*

c.916C>T

1 paper

NM_181458.4

p.Y305Y

c.915C>T

2 papers

NM_181458.4

p.Y305*

c.915C>G

2 papers

NM_181458.4

p.Y305*

c.915C>A

1 paper

NM_181458.4

p.L307L

c.919C>T

1 paper

NM_181458.4

p.S308L

c.923C>T

1 paper

NM_181458.4

p.S308insFs

c.923dupC

2 papers

NM_181458.4

p.E309insFs

c.925dupG

NM_001127366.3

p.E308insFs

c.922dupG

1 paper

NM_181458.4

p.M299K

c.896T>A

2 papers

NM_181458.4

p.Y312*

c.936C>G

2 papers

NM_181458.4

p.Y312*

c.936C>A

6 papers

NM_181458.4

p.Q313*

c.937C>T