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.L234R

c.701T>G

Surrounding Variants

5 papers

NM_181458.4

p.L234P

c.701T>C

1 paper

NM_181458.4

p.L234L

c.700C>T

3 papers

NM_181458.4

p.E235*

c.703G>T

1 paper

NM_181458.4

p.E233insFs

c.697_698insA

2 papers

NM_181458.4

p.E233K

c.697G>A

2 papers

NM_001127366.3

p.R235S

c.703C>A

NM_181458.4

p.R236S

c.706C>A

1 paper

NM_181458.4

p.R236R

c.708T>A

1 paper

NM_181458.4

p.Q230Q

c.690G>A

6 papers

NM_181458.4

p.F238S

c.713T>C

1 paper

NM_181458.4

p.Q230R

c.689A>G

1 paper

NM_181458.4

p.Q230K

c.688C>A

2 papers

NM_181458.4

p.R240*

c.718A>T