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

4 papers

NM_181458.4

p.V263G

c.788T>G

Surrounding Variants

1 paper

NM_181458.4

p.V263E

c.788T>A

2 papers

NM_181458.4

p.V263insFs

c.788dupT

1 paper

NM_181458.4

p.Q264fs

c.790_791fs

2 papers

NM_181458.4

p.Q264*

c.790C>T

1 paper

NM_181458.4

p.R262Q

c.785G>A

8 papers

NM_181458.4

p.R262*

c.784C>T

NM_001127366.3

p.R261*

c.781C>T

3 papers

NM_181458.4

p.Q264_V265Splc

c.792+1G>A

1 paper

NM_181458.4

p.K257_E260delFs

c.771_780del10

1 paper

NM_181458.4

p.Q264_V265Splc

c.792+2T>C

1 paper

NM_181458.4

p.A261D

c.782C>A

1 paper

NM_181458.4

p.R255delFs

c.764delC

1 paper

NM_181458.4

p.R255G

c.763A>G