Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.S292F

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
11 papers
NM_001206744.2
p.S292F
c.875C>T
Surrounding Variants
3 papers
NM_001206744.2
p.R291H
c.872G>A
1 paper
NM_001206744.2
p.F289S
c.866T>C
1 paper
NM_001206744.2
p.C296delFs
c.886delT
1 paper
NM_001206744.2
p.F289I
c.865T>A
1 paper
NM_001206744.2
p.C296fs
c.886_887fs
2 papers
NM_001206744.2
p.P288H
c.863C>A
1 paper
NM_001206744.2
p.C296Y
c.887G>A
1 paper
NM_001206744.2
p.P288S
c.862C>T
1 paper
NM_001206744.2
p.G297V
c.890G>T
1 paper
NM_001206744.2
p.T298I
c.893C>T
1 paper
NM_001206744.2
p.C286S
c.857G>C
1 paper
NM_001206744.2
p.C286S
c.856T>A
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