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.S77G

c.229A>G

Surrounding Variants

1 paper

NM_016734.3

p.S77N

c.230G>A

2 papers

NM_016734.3

p.G76E

c.227G>A

1 paper

NM_016734.3

p.S77S

c.231C>T

1 paper

NM_016734.3

p.T75_G76insFs

c.225_226insAC

1 paper

NM_016734.3

p.G76R

c.226G>A

4 papers

NM_016734.3

p.T75I

c.224C>T

3 papers

NM_016734.3

p.T75R

c.224C>G

1 paper

NM_016734.3

p.T75K

c.224C>A

1 paper

NM_016734.3

p.P80S

c.238C>T

1 paper

NM_016734.3

p.Y73_E74insFs

c.219_220insG

2 papers

NM_016734.3

p.P80L

c.239C>T

100 papers

NM_016734.3

p.P80R

c.239C>G