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.L76P

c.227T>C

Surrounding Variants

1 paper

NM_181458.4

p.Q75_L76insFs

c.225_226insAC

2 papers

NM_181458.4

p.R77C

c.229C>T

4 papers

NM_181458.4

p.Q75*

c.223C>T

8 papers

NM_181458.4

p.V78M

c.232G>A

1 paper

NM_181458.4

p.R74H

c.221G>A

4 papers

NM_181458.4

p.R74C

c.220C>T

1 paper

NM_181458.4

p.R74G

c.220C>G

7 papers

NM_181458.4

p.S73L

c.218C>T

4 papers

NM_181458.4

p.S73*

c.218C>A

12 papers

NM_181458.4

p.H80D

c.238C>G

4 papers

NM_181458.4

p.I72V

c.214A>G

2 papers

NM_181458.4

p.G81C

c.241G>T