Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.D553N

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.D553N
c.1657G>A
Surrounding Variants
1 paper
NM_001206744.2
p.Q554E
c.1660C>G
1 paper
NM_001206744.2
p.K548*
c.1642A>T
1 paper
NM_001206744.2
p.E559D
c.1677G>T
5 papers
NM_001206744.2
p.T561M
c.1682C>T
2 papers
NM_001206744.2
p.A544V
c.1631C>T
1 paper
NM_001206744.2
p.E562A
c.1685A>C
1 paper
NM_001206744.2
p.E562D
c.1686A>C
1 paper
NM_001206744.2
p.E562D
c.1686A>T
1 paper
NM_001206744.2
p.L542R
c.1625T>G
1 paper
NM_001206744.2
p.L564I
c.1690C>A
1 paper
NM_001206744.2
p.L564_F565insFs
c.1692_1693insA
1 paper
NM_001206744.2
p.R540Q
c.1619G>A
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