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.K276R

c.827A>G

Surrounding Variants

3 papers

NM_181458.4

p.Q277*

c.829C>T

1 paper

NM_181458.4

p.Q277fs

c.829_830fs

6 papers

NM_181458.4

p.W274*

c.822G>A

6 papers

NM_181458.4

p.W274*

c.821G>A

1 paper

NM_181458.4

p.A278delFs

c.832delC

1 paper

NM_181458.4

p.A272_R273del2

c.814_818del6

2 papers

NM_181458.4

p.R273K

c.818G>A

1 paper

NM_181458.4

p.A272G

c.815C>G

3 papers

NM_181458.4

p.A280delFs

c.838delC

2 papers

NM_181458.4

p.A280fs

c.838_839fs

1 paper

NM_181458.4

p.R271L

c.812G>T

1 paper

NM_181458.4

p.R270insFs

c.810dupC