Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.E562D

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.E562D
c.1686A>T
Surrounding Variants
1 paper
NM_001206744.2
p.E562D
c.1686A>C
1 paper
NM_001206744.2
p.E562A
c.1685A>C
1 paper
NM_001206744.2
p.L564I
c.1690C>A
5 papers
NM_001206744.2
p.T561M
c.1682C>T
1 paper
NM_001206744.2
p.L564_F565insFs
c.1692_1693insA
1 paper
NM_001206744.2
p.E559D
c.1677G>T
1 paper
NM_001206744.2
p.V566insFs
c.1696dupG
2 papers
NM_001206744.2
p.S571R
c.1711A>C
1 paper
NM_001206744.2
p.Q554E
c.1660C>G
1 paper
NM_001206744.2
p.T572delFs
c.1714_1715delAC
2 papers
NM_001206744.2
p.S571R
c.1713C>A
2 papers
NM_001206744.2
p.S571R
c.1713C>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."