Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.P346L

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
4 papers
NM_003466.4
p.P346L
c.1037C>T
Surrounding Variants
1 paper
NM_003466.4
p.H347fs
c.1039_1040fs
1 paper
NM_003466.4
p.H347insFs
c.1039dupC
1 paper
NM_003466.4
p.A344delFs
c.1030delC
1 paper
NM_003466.4
p.A349S
c.1045G>T
1 paper
NM_003466.4
p.A349T
c.1045G>A
1 paper
NM_003466.4
p.A349D
c.1046C>A
1 paper
NM_003466.4
p.F342fs
c.1024_1025fs
1 paper
NM_003466.4
p.P340_P341insFs
c.1018_1022dup5
1 paper
NM_003466.4
p.S350S
c.1050C>T
1 paper
NM_003466.4
p.F342fs
c.1024_1025fs
1 paper
NM_003466.4
p.P340ins6
c.1019_1020ins18
1 paper
NM_003466.4
p.G353R
c.1057G>C
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