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.F267L

c.801T>A

Surrounding Variants

3 papers

NM_181458.4

p.V265_F267del0

c.795_800del6

1 paper

NM_181458.4

p.F267delFs

c.801delA

6 papers

NM_181458.4

p.F267I

c.799T>A

1 paper

NM_181458.4

p.F267fs

c.799_800fs

1 paper

NM_181458.4

p.S268I

c.803G>T

7 papers

NM_181458.4

p.W266C

c.798G>T

7 papers

NM_181458.4

p.W266C

c.798G>C

1 paper

NM_181458.4

p.W266*

c.798G>A

2 papers

NM_181458.4

p.W266S

c.797G>C

1 paper

NM_181458.4

p.W266*

c.797G>A

3 papers

NM_181458.4

p.N269D

c.805A>G

1 paper

NM_181458.4

p.N269H

c.805A>C