Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.S59R

PAX8

411 papers

RefSeq Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired...

Pfam Domains

PAXaa 9–133UCSC'Paired box' domain
Pax2_Caa 337–449UCSCPaired-box protein 2 C terminal

Gene Aliases

HGNC Name

paired box 8

HGNC Alias Symbol

PAX-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003466.4
p.S59R
c.177C>G
Surrounding Variants
4 papers
NM_003466.4
p.S59R
c.177C>A
4 papers
NM_003466.4
p.S59R
c.175A>C
2 papers
NM_003466.4
p.V58I
c.172G>A
21 papers
NM_003466.4
p.C57Y
c.170G>A
28 papers
NM_003466.4
p.L62R
c.185T>G
1 paper
NM_003466.4
p.G63S
c.187G>A
6 papers
NM_003466.4
p.H55Q
c.165T>G
6 papers
NM_003466.4
p.H55Q
c.165T>A
2 papers
NM_003466.4
p.H55R
c.164A>G
1 paper
NM_003466.4
p.R64Splc
c.191+1G>A
5 papers
NM_003466.4
p.S54R
c.162C>G
5 papers
NM_003466.4
p.S54R
c.162C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."