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.N29K

c.87T>G

Surrounding Variants

1 paper

NM_016734.3

p.N29K

c.87T>A

1 paper

NM_016734.3

p.G30*

c.88G>T

2 papers

NM_016734.3

p.N29I

c.86A>T

1 paper

NM_016734.3

p.N29S

c.86A>G

2 papers

NM_016734.3

p.N29H

c.85A>C

1 paper

NM_016734.3

p.V28A

c.83T>C

3 papers

NM_016734.3

p.R31W

c.91C>T

1 paper

NM_016734.3

p.R31L

c.92G>T

1 paper

NM_016734.3

p.F27insFs

c.81dupT

4 papers

NM_016734.3

p.R31Q

c.92G>A

1 paper

NM_016734.3

p.F27delFs

c.81delA

1 paper

NM_016734.3

p.V28fs

c.82_83fs