Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q509*

TPO

753 papers

RefSeq Summary

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues ...

Pfam Domains

An_peroxidaseaa 151–709UCSCAnimal haem peroxidase
Sushiaa 742–794UCSCSushi repeat (SCR repeat)
EGF_CAaa 796–838UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

thyroid peroxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001206744.2
p.Q509*
c.1525C>T
Surrounding Variants
1 paper
NM_175722.3
p.Q336_E337del1
c.1007_1009delAGG
1 paper
NM_001206744.2
p.E510fs
c.1528_1529fs
3 papers
NM_001206744.2
p.S507_D513del0
c.1519_1539del21
2 papers
NM_001206744.2
p.A506T
c.1516G>A
2 papers
NM_001206744.2
p.P512H
c.1535C>A
1 paper
NM_001206744.2
p.L504L
c.1510C>T
4 papers
NM_001206744.2
p.V501G
c.1502T>G
1 paper
NM_001206744.2
p.W518*
c.1553G>A
1 paper
NM_001206744.2
p.P499R
c.1496C>G
6 papers
NM_001206744.2
p.P499L
c.1496C>T
1 paper
NM_001206744.2
p.W518*
c.1554G>A
1 paper
NM_175722.3
p.P326S
c.976C>T
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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."