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.S131N

c.392G>A

Surrounding Variants

2 papers

NM_016734.3

p.S131R

c.393C>G

2 papers

NM_016734.3

p.S131R

c.393C>A

2 papers

NM_016734.3

p.S131R

c.391A>C

1 paper

NM_016734.3

p.P130P

c.390T>A

1 paper

NM_016734.3

p.V132I

c.394G>A

1 paper

NM_016734.3

p.V132A

c.395T>C

1 paper

NM_016734.3

p.P130T

c.388C>A

3 papers

NM_016734.3

p.S133R

c.397A>C

1 paper

NM_016734.3

p.V129A

c.386T>C

1 paper

NM_016734.3

p.V129delFs

c.385delC

1 paper

NM_016734.3

p.S133T

c.398G>C

3 papers

NM_016734.3

p.S133R

c.399T>G