Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.N99S

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.N99S
c.296A>G
Surrounding Variants
1 paper
NM_003466.4
p.R97C
c.289C>T
1 paper
NM_003466.4
p.M102fs
c.304_305fs
2 papers
NM_003466.4
p.F103I
c.307T>A
2 papers
NM_003466.4
p.Y95*
c.285C>G
2 papers
NM_003466.4
p.Y95*
c.285C>A
1 paper
NM_003466.4
p.G93_D94delFs
c.278_281del4
6 papers
NM_003466.4
p.D94N
c.280G>A
2 papers
NM_003466.4
p.G93R
c.277G>C
2 papers
NM_003466.4
p.G93R
c.277G>A
2 papers
NM_003466.4
p.I92T
c.275T>C
1 paper
NM_003466.4
p.K91R
c.272A>G
3 papers
NM_003466.4
p.E90del1
c.268_269delCTC
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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."