Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Y470C

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.Y470C
c.1409A>G
Surrounding Variants
1 paper
NM_001206744.2
p.V467M
c.1399G>A
2 papers
NM_001206744.2
p.A477_V484del0
c.1430_1450del21
1 paper
NM_175722.3
p.A289D
c.866C>A
1 paper
NM_001206744.2
p.A462P
c.1384G>C
1 paper
NM_001206744.2
p.E461A
c.1382A>C
1 paper
NM_001206744.2
p.V481_R491del11
c.1441_1472del33
3 papers
NM_001206744.2
p.L458P
c.1373T>C
1 paper
NM_001206744.2
p.N483_V484delFs
c.1447_1450del4
1 paper
NM_001206744.2
p.L458_G459del2
c.1372_1376del6
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
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