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.T108A

c.322A>G

Surrounding Variants

6 papers

NM_016734.3

p.T108S

c.322A>T

1 paper

NM_016734.3

p.N106S

c.317A>G

1 paper

NM_016734.3

p.R104_N106delFs

c.310_316del7

2 papers

NM_016734.3

p.F110I

c.328T>A

1 paper

NM_016734.3

p.N106H

c.316A>C

1 paper

NM_016734.3

p.A111S

c.331G>T

1 paper

NM_016734.3

p.A111T

c.331G>A

1 paper

NM_016734.3

p.A111delins

c.331_332delinsTG

1 paper

NM_016734.3

p.R104H

c.311G>A

1 paper

NM_016734.3

p.A111fs

c.331_332fs

1 paper

NM_016734.3

p.W112R

c.334T>C

1 paper

NM_016734.3

p.W112R

c.334T>A