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.F27fs

c.79_80fs

Surrounding Variants

1 paper

NM_016734.3

p.F27L

c.79T>C

1 paper

NM_016734.3

p.F27I

c.79T>A

10 papers

NM_016734.3

p.V26fs

c.76_77fs

2 papers

NM_016734.3

p.F27S

c.80T>C

7 papers

NM_016734.3

p.V26insFs

c.76dupG

2 papers

NM_016734.3

p.F27fs

c.79_80fs

43 papers

NM_016734.3

p.V26G

c.77T>G

1 paper

NM_016734.3

p.F27L

c.81T>G

1 paper

NM_016734.3

p.F27L

c.81T>A

3 papers

NM_016734.3

p.G24delFs

c.71delC

7 papers

NM_016734.3

p.V26fs

c.76_77fs

1 paper

NM_016734.3

p.V26F

c.76G>T