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_181458.4

p.L41L

c.123C>T

Surrounding Variants

1 paper

NM_181458.4

p.L41H

c.122T>A

1 paper

NM_181458.4

p.R37_Q40delFs

c.110_119del10

1 paper

NM_181458.4

p.G42C

c.124G>T

14 papers

NM_181458.4

p.G42R

c.124G>C

5 papers

NM_181458.4

p.L41delFs

c.123delG

1 paper

NM_181458.4

p.L41I

c.121C>A

2 papers

NM_181458.4

p.G43C

c.127G>T

1 paper

NM_181458.4

p.G42insFs

c.126dupC

1 paper

NM_181458.4

p.G43S

c.127G>A

2 papers

NM_181458.4

p.Q40P

c.119A>C

4 papers

NM_181458.4

p.G43V

c.128G>T

1 paper

NM_181458.4

p.G43insFs

c.128_129insCG