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.S169S

c.507G>A

Surrounding Variants

1 paper

NM_016734.3

p.S160_V167del8

c.478_500del24

1 paper

NM_016734.3

p.S171T

c.512G>C

1 paper

NM_016734.3

p.S171N

c.512G>A

2 papers

NM_016734.3

p.V167L

c.499G>T

1 paper

NM_016734.3

p.D173N

c.517G>A

1 paper

NM_016734.3

p.Q166*

c.496C>T

2 papers

NM_016734.3

p.S174L

c.521C>T

3 papers

NM_016734.3

p.G176R

c.526G>C

2 papers

NM_016734.3

p.S177*

c.530C>A

1 paper

NM_016734.3

p.Y179F

c.536A>T

1 paper

NM_016734.3

p.Y179S

c.536A>C

2 papers

NM_016734.3

p.Y179*

c.537C>G