Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C655Y

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.C655Y
c.1964G>A
Surrounding Variants
1 paper
NM_001206744.2
p.C655S
c.1964G>C
2 papers
NM_001206744.2
p.C655F
c.1964G>T
1 paper
NM_001206744.2
p.C655S
c.1963T>A
1 paper
NM_001206744.2
p.I657_M661del5
c.1969_1982del15
1 paper
NM_001206744.2
p.I657T
c.1970T>C
1 paper
NM_001206744.2
p.G658_Q660del3
c.1972_1979del9
3 papers
NM_001206744.2
p.L652insFs
c.1955_1956insT
1 paper
NM_001206744.2
p.L652delFs
c.1954_1955delCT
1 paper
NM_001206744.2
p.P651S
c.1951C>T
16 papers
NM_001206744.2
p.Q660E
c.1978C>G
1 paper
NM_001206744.2
p.Q660*
c.1978C>T
2 papers
NM_001206744.2
p.G650G
c.1950G>A
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