Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.E799D

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.E799D
c.2397G>T
Surrounding Variants
1 paper
NM_001206744.2
p.E799D
c.2397G>C
1 paper
NM_001206744.2
p.C800S
c.2398T>A
7 papers
NM_001206744.2
p.C800R
c.2398T>C
17 papers
NM_001206744.2
p.E799K
c.2395G>A
1 paper
NM_001206744.2
p.E799Q
c.2395G>C
1 paper
NM_001206744.2
p.C800S
c.2399G>C
3 papers
NM_001206744.2
p.N798K
c.2394C>A
3 papers
NM_001206744.2
p.N798K
c.2394C>G
3 papers
NM_001206744.2
p.A801T
c.2401G>A
1 paper
NM_001206744.2
p.D796G
c.2387A>G
3 papers
NM_001206744.2
p.H805delFs
c.2413delC
1 paper
NM_001206744.2
p.H805fs
c.2413_2414fs
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