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.N21fs

c.61_62fs

Surrounding Variants

1 paper

NM_016734.3

p.V20insFs

c.58_59ins7

1 paper

NM_016734.3

p.N21N

c.63T>C

2 papers

NM_016734.3

p.Q22fs

c.64_65fs

1 paper

NM_016734.3

p.Q22*

c.64C>T

1 paper

NM_016734.3

p.Q22E

c.64C>G

1 paper

NM_016734.3

p.Q22K

c.64C>A

1 paper

NM_016734.3

p.Q22P

c.65A>C

1 paper

NM_016734.3

p.Q22insFs

c.64_65ins11

1 paper

NM_016734.3

p.Q22H

c.66G>T

1 paper

NM_016734.3

p.Q22H

c.66G>C

1 paper

NM_016734.3

p.V20G

c.59T>G

2 papers

NM_016734.3

p.V20A

c.59T>C