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

3 papers

NM_016734.3

p.D53V

c.158A>T

Surrounding Variants

1 paper

NM_016734.3

p.D53G

c.158A>G

2 papers

NM_016734.3

p.D53H

c.157G>C

2 papers

NM_016734.3

p.D53N

c.157G>A

1 paper

NM_016734.3

p.C52*

c.156C>A

1 paper

NM_016734.3

p.I54N

c.161T>A

1 paper

NM_016734.3

p.C52G

c.154T>G

1 paper

NM_016734.3

p.P51L

c.152C>T

1 paper

NM_016734.3

p.P51R

c.152C>G

1 paper

NM_016734.3

p.R56G

c.166A>G

1 paper

NM_016734.3

p.R56K

c.167G>A

1 paper

NM_016734.3

p.I54_R56delFs

c.160_167del8

1 paper

NM_016734.3

p.A45_V49delFs

c.134_147del14