Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Y330*

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.Y330*
c.990T>A
Surrounding Variants
1 paper
NM_001206744.2
p.Y330Y
c.990T>C
1 paper
NM_001206744.2
p.Y330*
c.990T>G
1 paper
NM_001206744.2
p.Y330C
c.989A>G
1 paper
NM_001206744.2
p.G331C
c.991G>T
1 paper
NM_001206744.2
p.G331_L336delFs
c.992_1008del17
1 paper
NM_001206744.2
p.G331D
c.992G>A
2 papers
NM_001206744.2
p.G331V
c.992G>T
1 paper
NM_001206744.2
p.S333P
c.997T>C
1 paper
NM_001206744.2
p.T328_V329insG
c.982_986ins3
1 paper
NM_001206744.2
p.A326E
c.977C>A
2 papers
NM_001206744.2
p.A326T
c.976G>A
2 papers
NM_001206744.2
p.L336_E337del2
c.1006_1010del6
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