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.R71Splc

c.212+9A>T

Surrounding Variants

1 paper

NM_016734.3

p.R71Splc

c.212+9A>G

4 papers

NM_016734.3

p.R71Splc

c.212+11T>G

1 paper

NM_016734.3

p.R71Splc

c.212+6G>T

1 paper

NM_016734.3

p.R71T

c.212G>C

1 paper

NM_016734.3

p.G70R

c.208G>C

1 paper

NM_016734.3

p.L69P

c.206T>C

1 paper

NM_016734.3

p.I68T

c.203T>C

8 papers

NM_016734.3

p.S66N

c.197G>A

2 papers

NM_016734.3

p.S66G

c.196A>G

2 papers

NM_016734.3

p.C64F

c.191G>T

1 paper

NM_016734.3

p.C64_V65ins11

c.190_194ins33

1 paper

NM_016734.3

p.C64G

c.190T>G