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

3 papers

NM_181458.4

p.C88*

c.264C>A

Surrounding Variants

2 papers

NM_181458.4

p.C88delFs

c.264delG

1 paper

NM_181458.4

p.L87del1

c.259_260delCAG

8 papers

NM_181458.4

p.Y90H

c.268T>C

1 paper

NM_181458.4

p.Y90*

c.270C>G

1 paper

NM_181458.4

p.Y90*

c.270C>A

1 paper

NM_181458.4

p.I86N

c.257T>A

3 papers

NM_181458.4

p.I86F

c.256A>T

1 paper

NM_181458.4

p.Q91R

c.272A>G

1 paper

NM_181458.4

p.K85N

c.255G>T

1 paper

NM_181458.4

p.K85N

c.255G>C

1 paper

NM_181458.4

p.K85K

c.255G>A

1 paper

NM_181458.4

p.Q91delFs

c.272_273delCT