Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R648Q

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
12 papers
NM_001206744.2
p.R648Q
c.1943G>A
Surrounding Variants
1 paper
NM_001206744.2
p.R648G
c.1942C>G
1 paper
NM_001206744.2
p.R648W
c.1942C>T
1 paper
NM_001206744.2
p.T649R
c.1946C>G
1 paper
NM_001206744.2
p.A647T
c.1939G>A
3 papers
NM_001206744.2
p.G650E
c.1949G>A
2 papers
NM_001206744.2
p.G650G
c.1950G>A
1 paper
NM_001206744.2
p.G650G
c.1950G>C
1 paper
NM_001206744.2
p.L652insFs
c.1954dupC
1 paper
NM_001206744.2
p.G650G
c.1950G>T
1 paper
NM_001206744.2
p.P651S
c.1951C>T
1 paper
NM_001206744.2
p.P645insFs
c.1934_1935insG
1 paper
NM_001206744.2
p.A647_P651delFs
c.1941_1951del11
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