Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R341Q

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
3 papers
NM_001206744.2
p.R341Q
c.1022G>A
Surrounding Variants
1 paper
NM_001206744.2
p.R341W
c.1021C>T
1 paper
NM_001206744.2
p.T344_S345delFs
c.1031_1034del4
6 papers
NM_001206744.2
p.R338W
c.1012A>T
1 paper
NM_001206744.2
p.R338_R341del0
c.1012_1023del12
3 papers
NM_001206744.2
p.E337K
c.1009G>A
1 paper
NM_001206744.2
p.E337Q
c.1009G>C
3 papers
NM_001206744.2
p.L336_E337del1
c.1007_1009delTAG
2 papers
NM_001206744.2
p.L336_E337del2
c.1006_1010del6
1 paper
NM_001206744.2
p.E347K
c.1039G>A
1 paper
NM_001206744.2
p.E347*
c.1039G>T
2 papers
NM_001206744.2
p.G348R
c.1042G>A
2 papers
NM_001206744.2
p.G348R
c.1042G>C
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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."