Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R684C

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.R684C
c.2050C>T
Surrounding Variants
1 paper
NM_001206744.2
p.R683S
c.2049G>C
1 paper
NM_001206744.2
p.R683S
c.2049G>T
1 paper
NM_001206744.2
p.R683M
c.2048G>T
1 paper
NM_001206744.2
p.E687*
c.2059G>T
1 paper
NM_001206744.2
p.S692P
c.2074T>C
1 paper
NM_001206744.2
p.S692C
c.2075C>G
7 papers
NM_001206744.2
p.R693W
c.2077C>T
1 paper
NM_001206744.2
p.N674S
c.2021A>G
5 papers
NM_001206744.2
p.E673K
c.2017G>A
3 papers
NM_001206744.2
p.C696S
c.2086T>A
2 papers
NM_001206744.2
p.W671*
c.2013G>A
3 papers
NM_001206744.2
p.C696S
c.2087G>C
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