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.I138S

c.413T>G

Surrounding Variants

1 paper

NM_016734.3

p.I139S

c.416T>G

2 papers

NM_016734.3

p.I139T

c.416T>C

1 paper

NM_016734.3

p.R140R

c.418C>A

10 papers

NM_016734.3

p.R140L

c.419G>T

5 papers

NM_016734.3

p.R140Q

c.419G>A

1 paper

NM_016734.3

p.R140R

c.420G>A

1 paper

NM_016734.3

p.K142E

c.424A>G

1 paper

NM_016734.3

p.K142T

c.425A>C

1 paper

NM_016734.3

p.V143insFs

c.428_429insCA

1 paper

NM_016734.3

p.V143G

c.428T>G

1 paper

NM_016734.3

p.Q144fs

c.430_431fs

1 paper

NM_016734.3

p.Q144R

c.431A>G