Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R386P

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.R386P
c.1157G>C
Surrounding Variants
1 paper
NM_001206744.2
p.R386C
c.1156C>T
5 papers
NM_001206744.2
p.G387R
c.1159G>A
5 papers
NM_001206744.2
p.G387R
c.1159G>C
1 paper
NM_001206744.2
p.T385I
c.1154C>T
4 papers
NM_001206744.2
p.E384G
c.1151A>G
1 paper
NM_001206744.2
p.E384K
c.1150G>A
1 paper
NM_001206744.2
p.C389S
c.1165T>A
1 paper
NM_001206744.2
p.C389S
c.1166G>C
2 papers
NM_001206744.2
p.I381delFs
c.1143delC
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.G393R
c.1177G>A
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