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

12 papers

NM_181458.4

p.N47K

c.141C>G

Surrounding Variants

1 paper

NM_181458.4

p.N47N

c.141C>T

11 papers

NM_181458.4

p.N47K

c.141C>A

4 papers

NM_181458.4

p.G48C

c.142G>T

9 papers

NM_181458.4

p.G48R

c.142G>C

2 papers

NM_181458.4

p.G48S

c.142G>A

5 papers

NM_181458.4

p.G48A

c.143G>C

2 papers

NM_181458.4

p.G48D

c.143G>A

1 paper

NM_181458.4

p.N47D

c.139A>G

18 papers

NM_181458.4

p.N47H

c.139A>C

1 paper

NM_181458.4

p.G48fs

c.142_143fs

1 paper

NM_181458.4

p.I46fs

c.136_137fs

2 papers

NM_181458.4

p.G48delFs

c.143delC