Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.S48A

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
1 paper
NM_003466.4
p.S48A
c.142T>G
Surrounding Variants
17 papers
NM_003466.4
p.S48F
c.143C>T
1 paper
NM_003466.4
p.I47I
c.141C>T
4 papers
NM_003466.4
p.I47T
c.140T>C
1 paper
NM_003466.4
p.R49C
c.145C>T
4 papers
NM_003466.4
p.R49H
c.146G>A
3 papers
NM_003466.4
p.D46fs
c.136_137fs
1 paper
NM_003466.4
p.D46fs
c.136_137fs
1 paper
NM_003466.4
p.Q50P
c.149A>C
1 paper
NM_003466.4
p.C45_Q50delFs
c.134_149del16
1 paper
NM_003466.4
p.P44T
c.130C>A
13 papers
NM_003466.4
p.R52P
c.155G>C
1 paper
NM_003466.4
p.R43R
c.129G>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."