Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C756fs

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
2 papers
NM_001206744.2
p.C756fs
c.2266_2267fs
Surrounding Variants
1 paper
NM_001206744.2
p.C756S
c.2266T>A
2 papers
NM_001206744.2
p.C756R
c.2266T>C
1 paper
NM_001206744.2
p.C756S
c.2267G>C
33 papers
NM_001206744.2
p.C756insFs
c.2268dupT
1 paper
NM_001206744.2
p.E757fs
c.2269_2270fs
3 papers
NM_001206744.2
p.E757insFs
c.2269_2270insT
18 papers
NM_001206744.2
p.E757*
c.2269G>T
2 papers
NM_001206744.2
p.E758K
c.2272G>A
1 paper
NM_001206744.2
p.V754delFs
c.2260delG
1 paper
NM_001206744.2
p.S759F
c.2276C>T
1 paper
NM_001206744.2
p.R762C
c.2284C>T
1 paper
NM_001206744.2
p.E749delFs
c.2245delG
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