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

1–12 of 639 variants

26 papers

NM_181458.4

p.R223*

c.667C>T

19 papers

NM_181458.4

p.R271H

c.812G>A

18 papers

NM_181458.4

p.N47H

c.139A>C

18 papers

NM_181458.4

p.R270C

c.808C>T

16 papers

NM_181458.4

p.R56L

c.167G>T

16 papers

NM_181458.4

p.R271C

c.811C>T

15 papers

NM_181458.4

p.S84F

c.251C>T

15 papers

NM_181458.4

p.T315K

c.944C>A

14 papers

NM_181458.4

p.G42R

c.124G>C

13 papers

NM_181458.4

p.F45L

c.133T>C

13 papers

NM_181458.4

p.F45L

c.135T>G

13 papers

NM_181458.4

p.F45L

c.135T>A