Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.E67D

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.E67D
c.201G>C
Surrounding Variants
1 paper
NM_003466.4
p.E67D
c.201G>T
1 paper
NM_003466.4
p.E67A
c.200A>C
1 paper
NM_003466.4
p.E67K
c.199G>A
2 papers
NM_003466.4
p.Y66del1
c.196_197delGTA
1 paper
NM_003466.4
p.T68I
c.203C>T
1 paper
NM_003466.4
p.Y65delFs
c.195delG
1 paper
NM_003466.4
p.G69D
c.206G>A
1 paper
NM_003466.4
p.Y65F
c.194A>T
2 papers
NM_003466.4
p.S70G
c.208A>G
2 papers
NM_003466.4
p.R64S
c.192G>T
2 papers
NM_003466.4
p.R64S
c.192G>C
1 paper
NM_003466.4
p.R72W
c.214C>T
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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."