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.L23H

c.68T>A

Surrounding Variants

1 paper

NM_016734.3

p.L23R

c.68T>G

1 paper

NM_016734.3

p.L23F

c.67C>T

1 paper

NM_016734.3

p.L23ins3

c.67_68ins9

1 paper

NM_016734.3

p.L23insFs

c.67_68ins10

1 paper

NM_016734.3

p.G24W

c.70G>T

1 paper

NM_016734.3

p.Q22H

c.66G>T

1 paper

NM_016734.3

p.L23insFs

c.68dupT

6 papers

NM_016734.3

p.G24R

c.70G>C

1 paper

NM_016734.3

p.Q22H

c.66G>C

6 papers

NM_016734.3

p.G24R

c.70G>A

1 paper

NM_016734.3

p.G24A

c.71G>C

1 paper

NM_016734.3

p.Q22P

c.65A>C