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.G216D

c.647G>A

Surrounding Variants

2 papers

NM_016734.3

p.P215L

c.644C>T

1 paper

NM_016734.3

p.P215fs

c.643_644fs

1 paper

NM_016734.3

p.G211_S213Fs

c.633_639delinsGTCCCFs

12 papers

NM_016734.3

p.S213L

c.638C>T

1 paper

NM_016734.3

p.F219F

c.657C>T

1 paper

NM_016734.3

p.H212fs

c.634_635fs

1 paper

NM_016734.3

p.R221W

c.661C>T

2 papers

NM_016734.3

p.G211fs

c.631_632fs

1 paper

NM_016734.3

p.N210_G211insFs

c.630_631ins7

1 paper

NM_016734.3

p.K222R

c.665A>G

1 paper

NM_016734.3

p.P209fs

c.625_626fs

2 papers

NM_016734.3

p.V208fs

c.622_623fs