Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A373S

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
18 papers
NM_001206744.2
p.A373S
c.1117G>T
Surrounding Variants
1 paper
NM_001206744.2
p.A371A
c.1113G>A
1 paper
NM_001206744.2
p.C375S
c.1123T>A
1 paper
NM_001206744.2
p.C375S
c.1124G>C
1 paper
NM_001206744.2
p.P368L
c.1103C>T
2 papers
NM_001206744.2
p.E378K
c.1132G>A
1 paper
NM_001206744.2
p.V367insFs
c.1101dupG
1 paper
NM_001206744.2
p.V367_R370delFs
c.1101_1110del10
1 paper
NM_001206744.2
p.P379R
c.1136C>G
1 paper
NM_001206744.2
p.G380S
c.1138G>A
1 paper
NM_001206744.2
p.G380R
c.1138G>C
1 paper
NM_001206744.2
p.P365T
c.1093C>A
2 papers
NM_001206744.2
p.I381delFs
c.1143delC
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