Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G587R

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
2 papers
NM_001206744.2
p.G587R
c.1759G>A
Surrounding Variants
2 papers
NM_001206744.2
p.G587R
c.1759G>C
1 paper
NM_001206744.2
p.D585E
c.1755C>A
1 paper
NM_001206744.2
p.L588_P589ins3
c.1764_1765ins9
2 papers
NM_001206744.2
p.R584Q
c.1751G>A
2 papers
NM_001206744.2
p.R584W
c.1750C>T
5 papers
NM_001206744.2
p.G590S
c.1768G>A
1 paper
NM_001206744.2
p.G590R
c.1768G>C
4 papers
NM_001206744.2
p.G590Splc
c.1768+1G>A
1 paper
NM_001206744.2
p.Q581*
c.1741C>T
1 paper
NM_001206744.2
p.A576A
c.1728G>A
2 papers
NM_001206744.2
p.A576E
c.1727C>A
1 paper
NM_001206744.2
p.A576V
c.1727C>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."