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

5 papers

NM_016734.3

p.G16R

c.46G>C

Surrounding Variants

1 paper

NM_016734.3

p.G16Splc

c.47-1G>T

5 papers

NM_016734.3

p.G16R

c.46G>A

1 paper

NM_016734.3

p.G16E

c.47G>A

1 paper

NM_016734.3

p.G16fs

c.46_47fs

1 paper

NM_016734.3

p.G16insFs

c.48dupA

1 paper

NM_016734.3

p.H17R

c.50A>G

1 paper

NM_016734.3

p.G18R

c.52G>C

1 paper

NM_016734.3

p.G18R

c.52G>A

1 paper

NM_016734.3

p.G19R

c.55G>C

1 paper

NM_016734.3

p.G19R

c.55G>A

1 paper

NM_016734.3

p.G19V

c.56G>T

2 papers

NM_016734.3

p.G19E

c.56G>A