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.V83V

c.249C>A

Surrounding Variants

1 paper

NM_181458.4

p.V83fs

c.247_248fs

3 papers

NM_181458.4

p.V83G

c.248T>G

2 papers

NM_181458.4

p.S84P

c.250T>C

2 papers

NM_181458.4

p.V83A

c.248T>C

1 paper

NM_181458.4

p.C82_V83delFs

c.246_247delCG

1 paper

NM_181458.4

p.C82delFs

c.246delG

15 papers

NM_181458.4

p.S84F

c.251C>T

6 papers

NM_181458.4

p.K85E

c.253A>G

1 paper

NM_181458.4

p.K85Q

c.253A>C

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