Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C808R

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
5 papers
NM_001206744.2
p.C808R
c.2422T>C
Surrounding Variants
1 paper
NM_001206744.2
p.C808S
c.2422T>A
4 papers
NM_001206744.2
p.C808fs
c.2422_2423fs
15 papers
NM_001206744.2
p.C808fs
c.2422_2423fs
23 papers
NM_001206744.2
p.C808delFs
c.2422delT
2 papers
NM_001206744.2
p.C808S
c.2423G>C
1 paper
NM_001206744.2
p.P806_P807insGCT
c.2416_2420ins9
5 papers
NM_001206744.2
p.P807insFs
c.2421dupC
1 paper
NM_001206744.2
p.P807delFs
c.2421delC
1 paper
NM_001206744.2
p.H805fs
c.2413_2414fs
3 papers
NM_001206744.2
p.H805delFs
c.2413delC
1 paper
NM_001206744.2
p.C814S
c.2440T>A
1 paper
NM_001206744.2
p.C814S
c.2441G>C
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