Varaico: Literature-Extracted Genetic Variants

Gene:PAX8

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
1–12 of 377 variants
37 papers
NM_003466.4
p.R31H
c.92G>A
36 papers
NM_003466.4
p.Q40P
c.119A>C
28 papers
NM_003466.4
p.L62R
c.185T>G
25 papers
NM_003466.4
p.R31C
c.91C>T
21 papers
NM_003466.4
p.C57Y
c.170G>A
18 papers
NM_003466.4
p.S54G
c.160A>G
17 papers
NM_003466.4
p.S48F
c.143C>T
17 papers
NM_003466.4
p.R108*
c.322C>T
13 papers
NM_003466.4
p.R52P
c.155G>C
12 papers
NM_003466.4
p.R133Q
c.398G>A
12 papers
NM_003466.4
p.F329L
c.985T>C
10 papers
NM_003466.4
p.T225M
c.674C>T
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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."