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

2 papers

NM_016734.3

p.H245Y

c.733C>T

Surrounding Variants

1 paper

NM_016734.3

p.H245_Y246insG

c.733_737ins3

1 paper

NM_016734.3

p.H245Q

c.735C>G

1 paper

NM_016734.3

p.H245Q

c.735C>A

1 paper

NM_016734.3

p.E242G

c.725A>G

1 paper

NM_016734.3

p.S247fs

c.739_740fs

3 papers

NM_016734.3

p.E242*

c.724G>T

1 paper

NM_016734.3

p.F250insFs

c.748_749insCT

1 paper

NM_016734.3

p.V240M

c.718G>A

2 papers

NM_016734.3

p.R239H

c.716G>A

2 papers

NM_016734.3

p.F250insFs

c.749dupT

1 paper

NM_016734.3

p.F250fs

c.748_749fs

2 papers

NM_016734.3

p.T251fs

c.751_752fs