Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.R31C

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
25 papers
NM_003466.4
p.R31C
c.91C>T
Surrounding Variants
37 papers
NM_003466.4
p.R31H
c.92G>A
1 paper
NM_003466.4
p.Q32*
c.94C>T
2 papers
NM_003466.4
p.R33C
c.97C>T
1 paper
NM_003466.4
p.R33H
c.98G>A
2 papers
NM_003466.4
p.I34F
c.100A>T
4 papers
NM_003466.4
p.I34T
c.101T>C
1 paper
NM_003466.4
p.P27P
c.81G>A
1 paper
NM_003466.4
p.I34M
c.102C>G
1 paper
NM_003466.4
p.V35L
c.103G>C
4 papers
NM_003466.4
p.V35I
c.103G>A
3 papers
NM_003466.4
p.P27T
c.79C>A
1 paper
NM_003466.4
p.D36N
c.106G>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."