Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.P313_M317del5

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.P313_M317del5
c.937_950del15
Surrounding Variants
3 papers
NM_001206744.2
p.R314W
c.940C>T
1 paper
NM_001206744.2
p.R314Q
c.941G>A
4 papers
NM_001206744.2
p.Q315*
c.943C>T
2 papers
NM_001206744.2
p.S309P
c.925T>C
1 paper
NM_001206744.2
p.N307K
c.921C>A
1 paper
NM_001206744.2
p.N307K
c.921C>G
1 paper
NM_001206744.2
p.M317I
c.951G>A
5 papers
NM_001206744.2
p.N307T
c.920A>C
10 papers
NM_001206744.2
p.G319R
c.955G>A
2 papers
NM_001206744.2
p.G306E
c.917G>A
10 papers
NM_001206744.2
p.G319R
c.955G>C
1 paper
NM_001206744.2
p.F305L
c.915T>A
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