Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.V339ins6

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.V339ins6
c.1015_1016ins18
Surrounding Variants
1 paper
NM_003466.4
p.V339fs
c.1015_1016fs
2 papers
NM_003466.4
p.G336_S337del2
c.1006_1010del6
1 paper
NM_003466.4
p.P340ins6
c.1019_1020ins18
1 paper
NM_003466.4
p.S337delFs
c.1011delG
2 papers
NM_003466.4
p.G336_S337del1
c.1007_1009delAGC
2 papers
NM_003466.4
p.S337A
c.1009T>G
1 paper
NM_003466.4
p.P340_P341insFs
c.1018_1022dup5
1 paper
NM_003466.4
p.F342fs
c.1024_1025fs
7 papers
NM_003466.4
p.G336S
c.1006G>A
1 paper
NM_003466.4
p.F342fs
c.1024_1025fs
1 paper
NM_003466.4
p.V335Fs
c.1003delinsGAFs
1 paper
NM_003466.4
p.A344delFs
c.1030delC
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