Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.W732*

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.W732*
c.2196G>A
Surrounding Variants
1 paper
NM_001206744.2
p.W732C
c.2196G>C
1 paper
NM_001206744.2
p.W732C
c.2196G>T
1 paper
NM_001206744.2
p.W732*
c.2195G>A
1 paper
NM_001206744.2
p.L729fs
c.2185_2186fs
1 paper
NM_001206744.2
p.N728delFs
c.2184delC
1 paper
NM_001206744.2
p.Q738*
c.2212C>T
1 paper
NM_001206744.2
p.G726A
c.2177G>C
1 paper
NM_001206744.2
p.G726V
c.2177G>T
1 paper
NM_001206744.2
p.T725_G726insFs
c.2174_2177dup4
27 papers
NM_001206744.2
p.T725P
c.2173A>C
1 paper
NM_001206744.2
p.C721Y
c.2162G>A
1 paper
NM_001206744.2
p.C721S
c.2162G>C
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