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.E43K

c.127G>A

Surrounding Variants

1 paper

NM_016734.3

p.V42M

c.124G>A

1 paper

NM_016734.3

p.A45V

c.134C>T

1 paper

NM_016734.3

p.R40fs

c.118_119fs

1 paper

NM_016734.3

p.H46N

c.136C>A

1 paper

NM_016734.3

p.H46fs

c.136_137fs

1 paper

NM_016734.3

p.Q39*

c.115C>T

26 papers

NM_016734.3

p.R38H

c.113G>A

1 paper

NM_016734.3

p.R38delFs

c.112delG

9 papers

NM_016734.3

p.R38C

c.112C>T

1 paper

NM_016734.3

p.R38G

c.112C>G

1 paper

NM_016734.3

p.R38S

c.112C>A

1 paper

NM_016734.3

p.R38fs

c.112_113fs