Varaico: Literature-Extracted Genetic Variants

PAX5

602 papers

RefSeq Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Pai...

Pfam Domains

PAXaa 1–32UCSC'Paired box' domain

PAXaa 16–140UCSC'Paired box' domain

Pax2_Caa 171–282UCSCPaired-box protein 2 C terminal

Gene Aliases

HGNC Name

paired box 5

HGNC Alias Symbols

BSAP; PAX-5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016734.3

p.Y315D

c.943T>G

Surrounding Variants

1 paper

NM_016734.3

p.Y315N

c.943T>A

1 paper

NM_016734.3

p.G314V

c.941G>T

1 paper

NM_016734.3

p.Y315fs

c.943_944fs

1 paper

NM_016734.3

p.G314R

c.940G>C

1 paper

NM_016734.3

p.G314R

c.940G>A

1 paper

NM_016734.3

p.P316H

c.947C>A

1 paper

NM_016734.3

p.H318N

c.952C>A

1 paper

NM_016734.3

p.T311T

c.933C>T

1 paper

NM_016734.3

p.H318H

c.954C>T

4 papers

NM_016734.3

p.V319fs

c.955_956fs

1 paper

NM_016734.3

p.T310K

c.929C>A

1 paper

NM_016734.3

p.P320S

c.958C>T