Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.Q334*

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.Q334*
c.1000C>T
Surrounding Variants
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
1 paper
NM_003466.4
p.S337delFs
c.1011delG
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
2 papers
NM_003466.4
p.G336_S337del2
c.1006_1010del6
12 papers
NM_003466.4
p.F329L
c.985T>C
1 paper
NM_003466.4
p.V339fs
c.1015_1016fs
1 paper
NM_003466.4
p.V339ins6
c.1015_1016ins18
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