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.L51R

c.152T>G

Surrounding Variants

1 paper

NM_181458.4

p.P52S

c.154C>T

10 papers

NM_181458.4

p.P50L

c.149C>T

1 paper

NM_181458.4

p.P52H

c.155C>A

1 paper

NM_181458.4

p.P52_N53insFs

c.156_157insC

1 paper

NM_181458.4

p.G48fs

c.142_143fs

2 papers

NM_181458.4

p.G48delFs

c.143delC

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.H54delFs

c.160delG

2 papers

NM_181458.4

p.P50_H54del0

c.149_160del12

4 papers

NM_181458.4

p.G48C

c.142G>T

9 papers

NM_181458.4

p.G48R

c.142G>C