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.V82delFs

c.244delC

Surrounding Variants

1 paper

NM_016734.3

p.V82insFs

c.245_246insG

1 paper

NM_016734.3

p.V82L

c.244G>T

1 paper

NM_016734.3

p.V82L

c.244G>C

5 papers

NM_016734.3

p.V82I

c.244G>A

1 paper

NM_016734.3

p.I83fs

c.247_248fs

1 paper

NM_016734.3

p.G84V

c.251G>T

2 papers

NM_016734.3

p.P80L

c.239C>T

100 papers

NM_016734.3

p.P80R

c.239C>G

1 paper

NM_016734.3

p.P80S

c.238C>T

1 paper

NM_016734.3

p.G84delFs

c.252delT

1 paper

NM_016734.3

p.G85fs

c.253_254fs

1 paper

NM_016734.3

p.S86P

c.256T>C