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.G183delFs

c.548delC

Surrounding Variants

3 papers

NM_016734.3

p.G183V

c.548G>T

5 papers

NM_016734.3

p.G183A

c.548G>C

1 paper

NM_016734.3

p.G183C

c.547G>T

7 papers

NM_016734.3

p.G183R

c.547G>C

47 papers

NM_016734.3

p.G183S

c.547G>A

1 paper

NM_016734.3

p.G183fs

c.547_548fs

1 paper

NM_016734.3

p.S182R

c.546C>G

1 paper

NM_016734.3

p.S182R

c.546C>A

1 paper

NM_016734.3

p.S182R

c.544A>C

1 paper

NM_016734.3

p.S180C

c.539C>G

1 paper

NM_016734.3

p.I187delFs

c.559delT

2 papers

NM_016734.3

p.Y179*

c.537C>G