Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q660H

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.Q660H
c.1980G>C
Surrounding Variants
1 paper
NM_001206744.2
p.Q660H
c.1980G>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.A663T
c.1987G>A
1 paper
NM_001206744.2
p.A663V
c.1988C>T
1 paper
NM_001206744.2
p.G658_Q660del3
c.1972_1979del9
1 paper
NM_001206744.2
p.I657T
c.1970T>C
1 paper
NM_001206744.2
p.I657_M661del5
c.1969_1982del15
25 papers
NM_001206744.2
p.R665W
c.1993C>T
12 papers
NM_001206744.2
p.R665Q
c.1994G>A
1 paper
NM_001206744.2
p.R665_D666insFs
c.1995_1996insT
1 paper
NM_001206744.2
p.C655Y
c.1964G>A
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