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.R197H

c.590G>A

Surrounding Variants

1 paper

NM_016734.3

p.N195_R197Fs

c.583_590delinsTFs

1 paper

NM_016734.3

p.R197C

c.589C>T

1 paper

NM_016734.3

p.R197insFs

c.589_590ins7

2 papers

NM_016734.3

p.R197fs

c.589_590fs

1 paper

NM_016734.3

p.K198fs

c.592_593fs

1 paper

NM_016734.3

p.K198fs

c.592_593fs

1 paper

NM_016734.3

p.K196*

c.586A>T

2 papers

NM_016734.3

p.R199K

c.596G>A

1 paper

NM_016734.3

p.N195fs

c.583_584fs

1 paper

NM_016734.3

p.R199fs

c.595_596fs

1 paper

NM_016734.3

p.N195insFs

c.583_584ins11

1 paper

NM_016734.3

p.A192_T194Fs

c.576_581delinsGGTTFs