Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.D707N

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.D707N
c.2119G>A
Surrounding Variants
2 papers
NM_001206744.2
p.M706V
c.2116A>G
1 paper
NM_175722.3
p.R530W
c.1588A>T
1 paper
NM_001206744.2
p.G712D
c.2135G>A
1 paper
NM_001206744.2
p.T702del1
c.2104_2106delACC
1 paper
NM_001206744.2
p.F714L
c.2140T>C
1 paper
NM_001206744.2
p.F714L
c.2142C>A
1 paper
NM_001206744.2
p.F714L
c.2142C>G
2 papers
NM_001206744.2
p.T699P
c.2095A>C
1 paper
NM_001206744.2
p.P715S
c.2143C>T
2 papers
NM_001206744.2
p.P715L
c.2144C>T
4 papers
NM_001206744.2
p.N698T
c.2093A>C
9 papers
NM_001206744.2
p.P715P
c.2145C>T
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