Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C782S

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.C782S
c.2345G>C
Surrounding Variants
1 paper
NM_001206744.2
p.C782S
c.2344T>A
1 paper
NM_001206744.2
p.W787*
c.2360G>A
1 paper
NM_001206744.2
p.W787*
c.2361G>A
1 paper
NM_001206744.2
p.G776G
c.2328C>T
1 paper
NM_001206744.2
p.L774F
c.2320C>T
1 paper
NM_001206744.2
p.P792_L793insCC
c.2374_2378ins6
4 papers
NM_001206744.2
p.Y772C
c.2315A>G
1 paper
NM_001206744.2
p.L793V
c.2377C>G
19 papers
NM_001206744.2
p.G771R
c.2311G>A
19 papers
NM_001206744.2
p.G771R
c.2311G>C
1 paper
NM_001206744.2
p.C794S
c.2380T>A
1 paper
NM_001206744.2
p.C794S
c.2381G>C
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