Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G348E

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.G348E
c.1043G>A
Surrounding Variants
2 papers
NM_001206744.2
p.G348R
c.1042G>A
2 papers
NM_001206744.2
p.G348R
c.1042G>C
1 paper
NM_001206744.2
p.E347K
c.1039G>A
1 paper
NM_001206744.2
p.E347*
c.1039G>T
1 paper
NM_001206744.2
p.R351_A354delFs
c.1053_1060del8
1 paper
NM_001206744.2
p.R351R
c.1053C>T
1 paper
NM_001206744.2
p.V352I
c.1054G>A
1 paper
NM_001206744.2
p.T344_S345delFs
c.1031_1034del4
1 paper
NM_001206744.2
p.A354T
c.1060G>A
1 paper
NM_001206744.2
p.R355C
c.1063C>T
3 papers
NM_001206744.2
p.R341Q
c.1022G>A
1 paper
NM_001206744.2
p.R341W
c.1021C>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."