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

1–12 of 598 variants

100 papers

NM_016734.3

p.P80R

c.239C>G

47 papers

NM_016734.3

p.G183S

c.547G>A

43 papers

NM_016734.3

p.V26G

c.77T>G

26 papers

NM_016734.3

p.R38H

c.113G>A

16 papers

NM_016734.3

p.A322fs

c.964_965fs

12 papers

NM_016734.3

p.S213L

c.638C>T

11 papers

NM_016734.3

p.A322T

c.964G>A

10 papers

NM_016734.3

p.V26fs

c.76_77fs

10 papers

NM_016734.3

p.R140L

c.419G>T

10 papers

NM_016734.3

p.A322fs

c.964_965fs

9 papers

NM_016734.3

p.R38C

c.112C>T

8 papers

NM_016734.3

p.S66N

c.197G>A