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.I256fs

c.766_767fs

Surrounding Variants

1 paper

NM_016734.3

p.I256_K257delFs

c.767_771del5

1 paper

NM_016734.3

p.P258L

c.773C>T

1 paper

NM_016734.3

p.P258fs

c.772_773fs

2 papers

NM_016734.3

p.E259K

c.775G>A

2 papers

NM_016734.3

p.T251N

c.752C>A

1 paper

NM_016734.3

p.Q260_T261Splc

c.780+5G>T

2 papers

NM_016734.3

p.T251fs

c.751_752fs

2 papers

NM_016734.3

p.F250insFs

c.749dupT

1 paper

NM_016734.3

p.F250fs

c.748_749fs

1 paper

NM_016734.3

p.F250insFs

c.748_749insCT

1 paper

NM_016734.3

p.S247fs

c.739_740fs

1 paper

NM_016734.3

p.H245Q

c.735C>G