Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.R220*

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
3 papers
NM_003466.4
p.R220*
c.658C>T
Surrounding Variants
1 paper
NM_003466.4
p.H222P
c.665A>C
1 paper
NM_003466.4
p.S216T
c.647G>C
2 papers
NM_003466.4
p.R224H
c.671G>A
1 paper
NM_003466.4
p.R224delFs
c.671delC
1 paper
NM_003466.4
p.T225P
c.673A>C
1 paper
NM_003466.4
p.S214delFs
c.642delG
10 papers
NM_003466.4
p.T225M
c.674C>T
1 paper
NM_003466.4
p.S214fs
c.640_641fs
1 paper
NM_003466.4
p.S214I
c.641G>T
1 paper
NM_003466.4
p.S216_T225del10
c.646_674del30
1 paper
NM_003466.4
p.Q213fs
c.637_638fs
1 paper
NM_003466.4
p.Q213delFs
c.637_638delTG
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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."