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.I187delFs

c.559delT

Surrounding Variants

1 paper

NM_016734.3

p.T188fs

c.562_563fs

1 paper

NM_016734.3

p.T188Fs

c.563delinsAGFs

1 paper

NM_016734.3

p.G186_T188del0

c.557_562del6

1 paper

NM_016734.3

p.T188insFs

c.563_564ins5

1 paper

NM_016734.3

p.I187_S189delFs

c.559_565del7

1 paper

NM_016734.3

p.S189fs

c.565_566fs

1 paper

NM_016734.3

p.P190S

c.568C>T

2 papers

NM_016734.3

p.G183delFs

c.548delC

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