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.N126Y

c.376A>T

Surrounding Variants

1 paper

NM_016734.3

p.N126T

c.377A>C

1 paper

NM_016734.3

p.N126fs

c.376_377fs

1 paper

NM_016734.3

p.D127V

c.380A>T

1 paper

NM_016734.3

p.D127A

c.380A>C

1 paper

NM_016734.3

p.V123insFs

c.368_369ins5

2 papers

NM_016734.3

p.V129M

c.385G>A

1 paper

NM_016734.3

p.V129A

c.386T>C

1 paper

NM_016734.3

p.V129delFs

c.385delC

2 papers

NM_016734.3

p.R122W

c.364C>T

1 paper

NM_016734.3

p.P130T

c.388C>A

1 paper

NM_016734.3

p.P130P

c.390T>A

2 papers

NM_016734.3

p.S131R

c.391A>C