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.T333delFs

c.998delG

Surrounding Variants

2 papers

NM_016734.3

p.T333fs

c.997_998fs

1 paper

NM_016734.3

p.T333A

c.997A>G

3 papers

NM_016734.3

p.G334fs

c.1000_1001fs

1 paper

NM_016734.3

p.M335fs

c.1003_1004fs

1 paper

NM_016734.3

p.M335Fs

c.1003delinsGAFs

1 paper

NM_016734.3

p.G334delFs

c.1002delC

2 papers

NM_016734.3

p.M335fs

c.1003_1004fs

1 paper

NM_016734.3

p.T331M

c.992C>T

4 papers

NM_016734.3

p.V336fs

c.1006_1007fs

1 paper

NM_016734.3

p.P330S

c.988C>T

1 paper

NM_016734.3

p.P330T

c.988C>A

1 paper

NM_016734.3

p.G338W

c.1012G>T