Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.W518*

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.W518*
c.1554G>A
Surrounding Variants
1 paper
NM_001206744.2
p.W518*
c.1553G>A
1 paper
NM_001206744.2
p.H520Y
c.1558C>T
1 paper
NM_001206744.2
p.A522A
c.1566T>C
2 papers
NM_001206744.2
p.P512H
c.1535C>A
1 paper
NM_001206744.2
p.P526L
c.1577C>T
1 paper
NM_001206744.2
p.E510fs
c.1528_1529fs
6 papers
NM_001206744.2
p.W527C
c.1581G>C
6 papers
NM_001206744.2
p.W527C
c.1581G>T
1 paper
NM_001206744.2
p.Q509*
c.1525C>T
1 paper
NM_175722.3
p.Q336_E337del1
c.1007_1009delAGG
1 paper
NM_001206744.2
p.L529F
c.1587A>C
1 paper
NM_001206744.2
p.L529F
c.1587A>T
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