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.135T>G

Surrounding Variants

13 papers

NM_181458.4

p.F45L

c.135T>A

1 paper

NM_181458.4

p.I46fs

c.136_137fs

13 papers

NM_181458.4

p.F45L

c.133T>C

2 papers

NM_181458.4

p.I46delFs

c.136delT

1 paper

NM_181458.4

p.V38_V44delFs

c.112_131del20

1 paper

NM_181458.4

p.I46fs

c.136_137fs

1 paper

NM_181458.4

p.N47D

c.139A>G

18 papers

NM_181458.4

p.N47H

c.139A>C

7 papers

NM_181458.4

p.G43G

c.129T>C

1 paper

NM_181458.4

p.N47N

c.141C>T

12 papers

NM_181458.4

p.N47K

c.141C>G

11 papers

NM_181458.4

p.N47K

c.141C>A