Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.V26delFs

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
Selected Variant
14 papers
NM_000278.5
p.V26delFs
c.76delG
Surrounding Variants
66 papers
NM_000278.5
p.V26insFs
c.76dupG
5 papers
NM_000278.5
p.G25_V26insFs
c.75_76dupGG
1 paper
NM_000278.5
p.L23_G24Fs
c.69_70delinsAFs
8 papers
NM_000278.5
p.G24R
c.70G>A
8 papers
NM_000278.5
p.G24R
c.70G>C
1 paper
NM_000278.5
p.G24fs
c.70_71fs
2 papers
NM_000278.5
p.G24W
c.70G>T
3 papers
NM_000278.5
p.G24Fs
c.70_72delinsAFs
4 papers
NM_000278.5
p.G24fs
c.70_71fs
2 papers
NM_000278.5
p.L23P
c.68T>C
2 papers
NM_000278.5
p.L23insFs
c.69dupC
8 papers
NM_000278.5
p.L23delFs
c.69delC
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