Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.D633E

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.D633E
c.1899T>A
Surrounding Variants
1 paper
NM_001206744.2
p.D633E
c.1899T>G
1 paper
NM_001206744.2
p.D633V
c.1898A>T
2 papers
NM_001206744.2
p.D633N
c.1897G>A
1 paper
NM_001206744.2
p.D633H
c.1897G>C
1 paper
NM_001206744.2
p.I632M
c.1896C>G
1 paper
NM_001206744.2
p.V634_W635Fs
c.1902_1903delinsCFs
1 paper
NM_175722.3
p.W462R
c.1384T>C
2 papers
NM_001206744.2
p.I632insFs
c.1895_1896insC
1 paper
NM_001206744.2
p.W635C
c.1905G>C
1 paper
NM_001206744.2
p.D630N
c.1888G>A
2 papers
NM_001206744.2
p.P629S
c.1885C>T
1 paper
NM_001206744.2
p.H628Q
c.1884T>A
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