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.L252P

c.755T>C

NM_001127366.3

p.L251P

c.752T>C

Surrounding Variants

6 papers

NM_181458.4

p.E251*

c.751G>T

9 papers

NM_181458.4

p.Q254*

c.760C>T

1 paper

NM_181458.4

p.E250insFs

c.748dupG

1 paper

NM_181458.4

p.R255G

c.763A>G

1 paper

NM_181458.4

p.R255delFs

c.764delC

1 paper

NM_181458.4

p.I246_Y247del2

c.736_740del6

2 papers

NM_181458.4

p.Y243_Y247delFs

c.727_739del13

1 paper

NM_181458.4

p.Y247N

c.739T>A

1 paper

NM_181458.4

p.P244L

c.731C>T

1 paper

NM_181458.4

p.A261D

c.782C>A

3 papers

NM_181458.4

p.Y243S

c.728A>C

1 paper

NM_181458.4

p.K257_E260delFs

c.771_780del10