Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R491C

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.R491C
c.1471C>T
Surrounding Variants
12 papers
NM_001206744.2
p.R491H
c.1472G>A
17 papers
NM_001206744.2
p.G493S
c.1477G>A
3 papers
NM_001206744.2
p.A489T
c.1465G>A
1 paper
NM_001206744.2
p.S486Y
c.1457C>A
1 paper
NM_001206744.2
p.T496M
c.1487C>T
3 papers
NM_001206744.2
p.V484M
c.1450G>A
2 papers
NM_001206744.2
p.P499delFs
c.1496delC
1 paper
NM_001206744.2
p.N483K
c.1449C>A
1 paper
NM_001206744.2
p.N483K
c.1449C>G
1 paper
NM_001206744.2
p.N483N
c.1449C>T
1 paper
NM_175722.3
p.P326S
c.976C>T
1 paper
NM_001206744.2
p.P499R
c.1496C>G
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