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

3 papers

NM_181458.4

p.K58del1

c.172_174delCTT

Surrounding Variants

2 papers

NM_181458.4

p.I59N

c.176T>A

7 papers

NM_181458.4

p.I59F

c.175A>T

7 papers

NM_181458.4

p.V60M

c.178G>A

3 papers

NM_181458.4

p.H57insFs

c.169_170insC

6 papers

NM_181458.4

p.M62V

c.184A>G

6 papers

NM_181458.4

p.M62T

c.185T>C

16 papers

NM_181458.4

p.R56L

c.167G>T

4 papers

NM_181458.4

p.R56H

c.167G>A

4 papers

NM_181458.4

p.M62I

c.186G>T

4 papers

NM_181458.4

p.M62I

c.186G>C

4 papers

NM_181458.4

p.M62I

c.186G>A

4 papers

NM_181458.4

p.R56C

c.166C>T