Varaico: Literature-Extracted Genetic Variants

Gene:PAX2

PAX2

361 papers

RefSeq Summary

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired b...

Pfam Domains

PAXaa 16–140UCSC'Paired box' domain
Pax2_Caa 281–391UCSCPaired-box protein 2 C terminal

Gene Aliases

HGNC Name

paired box 2

HGNC Alias Symbol

PAX-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 500 variants
66 papers
NM_000278.5
p.V26insFs
c.76dupG
38 papers
NM_000278.5
p.V26fs
c.76_77fs
21 papers
NM_000278.5
p.R104*
c.310C>T
18 papers
NM_000278.5
p.R115*
c.343C>T
18 papers
NM_000278.5
p.R140W
c.418C>T
17 papers
NM_000278.5
p.G76S
c.226G>A
17 papers
NM_000278.5
p.V207insFs
c.619_620insG
14 papers
NM_000278.5
p.V26delFs
c.76delG
14 papers
NM_000278.5
p.V26fs
c.76_77fs
14 papers
NM_000278.5
p.R71T
c.212G>C
14 papers
NM_000278.5
p.G189R
c.565G>C
13 papers
NM_000278.5
p.T164N
c.491C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."