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.Q324K

c.970C>A

Surrounding Variants

1 paper

NM_016734.3

p.Q324R

c.971A>G

1 paper

NM_016734.3

p.G323*

c.967G>T

1 paper

NM_016734.3

p.G325insFs

c.973_974insT

16 papers

NM_016734.3

p.A322fs

c.964_965fs

10 papers

NM_016734.3

p.A322fs

c.964_965fs

7 papers

NM_016734.3

p.P321insFs

c.963dupC

11 papers

NM_016734.3

p.A322T

c.964G>A

7 papers

NM_016734.3

p.P321delFs

c.963delG

1 paper

NM_016734.3

p.S326R

c.976A>C

4 papers

NM_016734.3

p.P321fs

c.961_962fs

1 paper

NM_016734.3

p.S326R

c.978C>G

1 paper

NM_016734.3

p.P321R

c.962C>G