Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.D630N

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.D630N
c.1888G>A
Surrounding Variants
2 papers
NM_001206744.2
p.P629S
c.1885C>T
1 paper
NM_001206744.2
p.H628Q
c.1884T>A
1 paper
NM_001206744.2
p.H628Q
c.1884T>G
2 papers
NM_001206744.2
p.H628_P629insFs
c.1884_1885insG
2 papers
NM_001206744.2
p.H628delFs
c.1883delA
2 papers
NM_001206744.2
p.I632insFs
c.1895_1896insC
1 paper
NM_001206744.2
p.I632M
c.1896C>G
2 papers
NM_001206744.2
p.D633N
c.1897G>A
1 paper
NM_001206744.2
p.D633H
c.1897G>C
1 paper
NM_001206744.2
p.D633V
c.1898A>T
1 paper
NM_001206744.2
p.Y626*
c.1878C>A
1 paper
NM_001206744.2
p.Y626*
c.1878C>G
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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."