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.D227H

c.679G>C

Surrounding Variants

1 paper

NM_016734.3

p.D227N

c.679G>A

1 paper

NM_016734.3

p.G226fs

c.676_677fs

1 paper

NM_016734.3

p.G226delFs

c.677delC

1 paper

NM_016734.3

p.D227delFs

c.681delG

1 paper

NM_016734.3

p.G226ins2

c.676_677ins6

1 paper

NM_016734.3

p.L228fs

c.682_683fs

1 paper

NM_016734.3

p.G226fs

c.676_677fs

2 papers

NM_016734.3

p.R225fs

c.673_674fs

1 paper

NM_016734.3

p.R225Q

c.674G>A

1 paper

NM_016734.3

p.K222R

c.665A>G

1 paper

NM_016734.3

p.Q232L

c.695A>T

1 paper

NM_016734.3

p.Q232R

c.695A>G