Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G599delFs

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.G599delFs
c.1796delG
Surrounding Variants
1 paper
NM_001206744.2
p.C598S
c.1793G>C
2 papers
NM_001206744.2
p.G599_P606del0
c.1795_1818del24
1 paper
NM_001206744.2
p.C598S
c.1792T>A
1 paper
NM_001206744.2
p.L600M
c.1798C>A
1 paper
NM_001206744.2
p.F597S
c.1790T>C
1 paper
NM_001206744.2
p.P601A
c.1801C>G
1 paper
NM_001206744.2
p.P601S
c.1801C>T
6 papers
NM_001206744.2
p.E596*
c.1786G>T
3 papers
NM_001206744.2
p.R602C
c.1804C>T
2 papers
NM_175722.3
p.R422K
c.1265G>A
NM_001206744.2
p.R595K
c.1784G>A
2 papers
NM_001206744.2
p.R595T
c.1784G>C
1 paper
NM_001206744.2
p.L603V
c.1807C>G
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