Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.L444P

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.L444P
c.1331T>C
Surrounding Variants
2 papers
NM_001206744.2
p.A443V
c.1328C>T
3 papers
NM_001206744.2
p.A443P
c.1327G>C
1 paper
NM_001206744.2
p.Q446*
c.1336C>T
2 papers
NM_001206744.2
p.Q446H
c.1338G>C
2 papers
NM_001206744.2
p.Q446H
c.1338G>T
4 papers
NM_001206744.2
p.Q446_I447Splc
c.1338+1G>A
1 paper
NM_001206744.2
p.Q446_I447Splc
c.1338+4C>T
1 paper
NM_001206744.2
p.K439E
c.1315A>G
5 papers
NM_001206744.2
p.R438H
c.1313G>A
1 paper
NM_001206744.2
p.R438P
c.1313G>C
1 paper
NM_001206744.2
p.R438S
c.1312C>A
1 paper
NM_001206744.2
p.R438C
c.1312C>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."