Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Y434*

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
3 papers
NM_001206744.2
p.Y434*
c.1302C>A
Surrounding Variants
1 paper
NM_001206744.2
p.Q435*
c.1303C>T
3 papers
NM_001206744.2
p.Y434_V440del7
c.1300_1319del21
2 papers
NM_001206744.2
p.V433M
c.1297G>A
1 paper
NM_001206744.2
p.A437V
c.1310C>T
1 paper
NM_001206744.2
p.D431G
c.1292A>G
1 paper
NM_001206744.2
p.R438S
c.1312C>A
1 paper
NM_001206744.2
p.R438C
c.1312C>T
5 papers
NM_001206744.2
p.R438H
c.1313G>A
1 paper
NM_001206744.2
p.R438P
c.1313G>C
1 paper
NM_001206744.2
p.K439E
c.1315A>G
1 paper
NM_001206744.2
p.A430T
c.1288G>A
1 paper
NM_001206744.2
p.W428C
c.1284G>C
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