Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C823*

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.C823*
c.2469T>A
Surrounding Variants
1 paper
NM_001206744.2
p.C823S
c.2468G>C
1 paper
NM_001206744.2
p.C823S
c.2467T>A
1 paper
NM_001206744.2
p.C825S
c.2473T>A
5 papers
NM_001206744.2
p.C825R
c.2473T>C
1 paper
NM_001206744.2
p.C825S
c.2474G>C
1 paper
NM_001206744.2
p.A826T
c.2476G>A
1 paper
NM_001206744.2
p.G820C
c.2458G>T
1 paper
NM_001206744.2
p.G819G
c.2457C>T
1 paper
NM_001206744.2
p.P828R
c.2483C>G
1 paper
NM_175719.4
p.Y772C
c.2315A>G
1 paper
NM_001206744.2
p.Y829*
c.2487C>A
1 paper
NM_001206744.2
p.Y829*
c.2487C>G
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