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

2 papers

NM_016734.3

p.L33F

c.97C>T

Surrounding Variants

4 papers

NM_016734.3

p.P32L

c.95C>T

4 papers

NM_016734.3

p.P32S

c.94C>T

1 paper

NM_016734.3

p.P34S

c.100C>T

7 papers

NM_016734.3

p.P34L

c.101C>T

4 papers

NM_016734.3

p.P34Q

c.101C>A

1 paper

NM_016734.3

p.R31L

c.92G>T

4 papers

NM_016734.3

p.R31Q

c.92G>A

1 paper

NM_016734.3

p.D35fs

c.103_104fs

1 paper

NM_016734.3

p.D35N

c.103G>A

3 papers

NM_016734.3

p.R31W

c.91C>T

1 paper

NM_016734.3

p.D35V

c.104A>T

1 paper

NM_016734.3

p.D35delFs

c.103delC