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_001127366.3

p.L214L

c.640C>T

Surrounding Variants

2 papers

NM_181458.4

p.L213delFs

c.639delT

1 paper

NM_181458.4

p.L213_P214insT

c.637_641ins3

2 papers

NM_181458.4

p.R217G

c.649A>G

1 paper

NM_001127366.3

p.R216delFs

c.646delT

3 papers

NM_181458.4

p.R217del1

c.649_650delCCT

1 paper

NM_181458.4

p.Q219*

c.655C>T

1 paper

NM_001127366.3

p.R216_Q218delFs

c.648_652del5

5 papers

NM_181458.4

p.E210*

c.628G>T

2 papers

NM_181458.4

p.S209delFs

c.626_627delAG

1 paper

NM_181458.4

p.R220C

c.658C>T

2 papers

NM_181458.4

p.S209S

c.627T>C

2 papers

NM_181458.4

p.S209F

c.626C>T