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.W112R

c.334T>C

Surrounding Variants

1 paper

NM_016734.3

p.W112R

c.334T>A

2 papers

NM_016734.3

p.A111delFs

c.333delG

1 paper

NM_016734.3

p.W112fs

c.334_335fs

1 paper

NM_016734.3

p.W112*

c.335G>A

1 paper

NM_016734.3

p.A111fs

c.331_332fs

1 paper

NM_016734.3

p.W112fs

c.334_335fs

1 paper

NM_016734.3

p.W112*

c.336G>A

1 paper

NM_016734.3

p.A111delins

c.331_332delinsTG

1 paper

NM_016734.3

p.A111S

c.331G>T

1 paper

NM_016734.3

p.A111T

c.331G>A

2 papers

NM_016734.3

p.E113V

c.338A>T

1 paper

NM_016734.3

p.E113delFs

c.337delC