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.Y312*

c.936C>G

Surrounding Variants

2 papers

NM_181458.4

p.Y312*

c.936C>A

6 papers

NM_181458.4

p.Q313*

c.937C>T

4 papers

NM_181458.4

p.S311_Y312insFs

c.933_936dup4

4 papers

NM_181458.4

p.P314H

c.941C>A

4 papers

NM_181458.4

p.P314delFs

c.942delG

15 papers

NM_181458.4

p.T315K

c.944C>A

1 paper

NM_181458.4

p.T315fs

c.943_944fs

1 paper

NM_181458.4

p.P314_T315del2

c.940_944del6

2 papers

NM_181458.4

p.E309insFs

c.925dupG

NM_001127366.3

p.E308insFs

c.922dupG

1 paper

NM_181458.4

p.T315_S316del1

c.944_946delATG

1 paper

NM_181458.4

p.S308insFs

c.923dupC

1 paper

NM_181458.4

p.I317fs

c.949_950fs