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.V208fs

c.622_623fs

Surrounding Variants

1 paper

NM_016734.3

p.V208fs

c.622_623fs

2 papers

NM_016734.3

p.P207_V208insFs

c.621_622ins16

1 paper

NM_016734.3

p.P209fs

c.625_626fs

1 paper

NM_016734.3

p.P207L

c.620C>T

1 paper

NM_016734.3

p.P207Q

c.620C>A

1 paper

NM_016734.3

p.N210_G211insFs

c.630_631ins7

2 papers

NM_016734.3

p.G211fs

c.631_632fs

1 paper

NM_016734.3

p.H212fs

c.634_635fs

1 paper

NM_016734.3

p.E205*

c.613G>T

1 paper

NM_016734.3

p.Q204insFs

c.610_611ins7

1 paper

NM_016734.3

p.Q204fs

c.610_611fs

12 papers

NM_016734.3

p.S213L

c.638C>T