Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.L16R

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.L16R
c.47T>G
Surrounding Variants
4 papers
NM_003466.4
p.L16P
c.47T>C
1 paper
NM_003466.4
p.G17V
c.50G>T
1 paper
NM_003466.4
p.F20insFs
c.58_59ins7
1 paper
NM_003466.4
p.G12G
c.36G>C
5 papers
NM_003466.4
p.F20S
c.59T>C
3 papers
NM_003466.4
p.G12V
c.35G>T
2 papers
NM_003466.4
p.G12A
c.35G>C
1 paper
NM_003466.4
p.G12E
c.35G>A
1 paper
NM_003466.4
p.F20L
c.60T>A
2 papers
NM_003466.4
p.G12W
c.34G>T
2 papers
NM_003466.4
p.G12R
c.34G>C
2 papers
NM_003466.4
p.G12R
c.34G>A
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."