Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.H39P

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
2 papers
NM_003466.4
p.H39P
c.116A>C
Surrounding Variants
1 paper
NM_003466.4
p.H39L
c.116A>T
1 paper
NM_003466.4
p.Q40E
c.118C>G
1 paper
NM_003466.4
p.A38D
c.113C>A
1 paper
NM_003466.4
p.A38delFs
c.112delC
36 papers
NM_003466.4
p.Q40P
c.119A>C
1 paper
NM_003466.4
p.L37P
c.110T>C
6 papers
NM_003466.4
p.G41V
c.122G>T
1 paper
NM_003466.4
p.D36N
c.106G>A
1 paper
NM_003466.4
p.V35L
c.103G>C
4 papers
NM_003466.4
p.V35I
c.103G>A
1 paper
NM_003466.4
p.R43R
c.129G>A
1 paper
NM_003466.4
p.I34M
c.102C>G
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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."