Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.F329L

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
12 papers
NM_003466.4
p.F329L
c.985T>C
Surrounding Variants
10 papers
NM_003466.4
p.F329L
c.987T>G
1 paper
NM_003466.4
p.F329F
c.987T>C
10 papers
NM_003466.4
p.F329L
c.987T>A
1 paper
NM_003466.4
p.A328V
c.983C>T
1 paper
NM_003466.4
p.S326T
c.977G>C
1 paper
NM_003466.4
p.S326fs
c.976_977fs
1 paper
NM_003466.4
p.Q334*
c.1000C>T
2 papers
NM_003466.4
p.S323C
c.968C>G
1 paper
NM_003466.4
p.V335Fs
c.1003delinsGAFs
7 papers
NM_003466.4
p.G336S
c.1006G>A
2 papers
NM_003466.4
p.S337A
c.1009T>G
2 papers
NM_003466.4
p.G336_S337del1
c.1007_1009delAGC
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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."