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

13 papers

NM_181458.4

p.F45L

c.133T>C

Surrounding Variants

1 paper

NM_181458.4

p.V38_V44delFs

c.112_131del20

13 papers

NM_181458.4

p.F45L

c.135T>G

13 papers

NM_181458.4

p.F45L

c.135T>A

1 paper

NM_181458.4

p.I46fs

c.136_137fs

7 papers

NM_181458.4

p.G43G

c.129T>C

2 papers

NM_181458.4

p.I46delFs

c.136delT

4 papers

NM_181458.4

p.G43V

c.128G>T

1 paper

NM_181458.4

p.G43insFs

c.128_129insCG

2 papers

NM_181458.4

p.G43A

c.128G>C

1 paper

NM_181458.4

p.G43D

c.128G>A

1 paper

NM_181458.4

p.I46fs

c.136_137fs

2 papers

NM_181458.4

p.G43C

c.127G>T