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.R56S

c.166C>A

Surrounding Variants

4 papers

NM_181458.4

p.R56C

c.166C>T

16 papers

NM_181458.4

p.R56L

c.167G>T

4 papers

NM_181458.4

p.R56H

c.167G>A

2 papers

NM_181458.4

p.I55N

c.164T>A

3 papers

NM_181458.4

p.H57insFs

c.169_170insC

1 paper

NM_181458.4

p.H54delFs

c.160delG

2 papers

NM_181458.4

p.P50_H54del0

c.149_160del12

7 papers

NM_181458.4

p.I59F

c.175A>T

1 paper

NM_181458.4

p.P52_N53insFs

c.156_157insC

2 papers

NM_181458.4

p.I59N

c.176T>A

3 papers

NM_181458.4

p.K58del1

c.172_174delCTT

1 paper

NM_181458.4

p.P52H

c.155C>A