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.G34C

c.100G>T

Surrounding Variants

1 paper

NM_181458.4

p.G34R

c.100G>C

1 paper

NM_181458.4

p.G34D

c.101G>A

1 paper

NM_181458.4

p.L33L

c.99C>T

1 paper

NM_181458.4

p.L33insFs

c.97dupC

1 paper

NM_181458.4

p.L33fs

c.97_98fs

1 paper

NM_181458.4

p.T31_P32delFs

c.91_95del5

1 paper

NM_181458.4

p.P32L

c.95C>T

3 papers

NM_181458.4

p.P32R

c.95C>G

2 papers

NM_181458.4

p.T31fs

c.91_92fs

1 paper

NM_181458.4

p.G36insFs

c.107_108insT

1 paper

NM_181458.4

p.T31I

c.92C>T

3 papers

NM_181458.4

p.T31S

c.92C>G