Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.R133Q

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
12 papers
NM_003466.4
p.R133Q
c.398G>A
Surrounding Variants
1 paper
NM_003466.4
p.I132_R133Fs
c.396_397delinsCFs
4 papers
NM_003466.4
p.R133W
c.397C>T
1 paper
NM_003466.4
p.I132_R133delins
c.396_397delinsTT
6 papers
NM_003466.4
p.K135R
c.404A>G
3 papers
NM_003466.4
p.P139L
c.416C>T
2 papers
NM_003466.4
p.C147Y
c.440G>A
2 papers
NM_003466.4
p.D145_C147delFs
c.434_440del7
1 paper
NM_003466.4
p.V148M
c.442G>A
1 paper
NM_003466.4
p.T134_A149del16
c.400_446del48
1 paper
NM_003466.4
p.S152S
c.456C>T
1 paper
NM_003466.4
p.L153fs
c.457_458fs
1 paper
NM_003466.4
p.L153delFs
c.457_458delAG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."