Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.P301delFs

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.P301delFs
c.902delG
Surrounding Variants
1 paper
NM_003466.4
p.P301fs
c.901_902fs
1 paper
NM_003466.4
p.P304P
c.912C>A
2 papers
NM_003466.4
p.A306G
c.917C>G
1 paper
NM_003466.4
p.T311S
c.931A>T
1 paper
NM_003466.4
p.T311S
c.932C>G
1 paper
NM_003466.4
p.E313*
c.937G>T
1 paper
NM_003466.4
p.E313Q
c.937G>C
1 paper
NM_003466.4
p.E313K
c.937G>A
1 paper
NM_003466.4
p.V314L
c.940G>T
1 paper
NM_003466.4
p.V314L
c.940G>C
1 paper
NM_003466.4
p.T320fs
c.958_959fs
1 paper
NM_003466.4
p.S319delFs
c.957delG
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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."