Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.L406P

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
4 papers
NM_001206744.2
p.L406P
c.1217T>C
Surrounding Variants
1 paper
NM_001206744.2
p.L406L
c.1218G>A
1 paper
NM_001206744.2
p.H407Y
c.1219C>T
1 paper
NM_001206744.2
p.L409P
c.1226T>C
1 paper
NM_001206744.2
p.L403M
c.1207C>A
1 paper
NM_001206744.2
p.L403_T404insT
c.1207_1211ins3
1 paper
NM_001206744.2
p.W410*
c.1229G>A
2 papers
NM_001206744.2
p.R412H
c.1235G>A
1 paper
NM_001206744.2
p.V400D
c.1199T>A
1 paper
NM_001206744.2
p.E413delFs
c.1237delG
1 paper
NM_001206744.2
p.E399D
c.1197G>C
1 paper
NM_001206744.2
p.E399D
c.1197G>T
1 paper
NM_001206744.2
p.E413G
c.1238A>G
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