Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C721S

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.C721S
c.2161T>A
Surrounding Variants
1 paper
NM_001206744.2
p.C721Y
c.2162G>A
1 paper
NM_001206744.2
p.C721S
c.2162G>C
1 paper
NM_001206744.2
p.T725_G726insFs
c.2174_2177dup4
27 papers
NM_001206744.2
p.T725P
c.2173A>C
1 paper
NM_001206744.2
p.D717fs
c.2149_2150fs
1 paper
NM_001206744.2
p.E716A
c.2147A>C
1 paper
NM_001206744.2
p.E716*
c.2146G>T
9 papers
NM_001206744.2
p.P715P
c.2145C>T
1 paper
NM_001206744.2
p.G726A
c.2177G>C
1 paper
NM_001206744.2
p.G726V
c.2177G>T
2 papers
NM_001206744.2
p.P715L
c.2144C>T
1 paper
NM_001206744.2
p.P715S
c.2143C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."