Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.E641K

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.E641K
c.1921G>A
Surrounding Variants
1 paper
NM_001206744.2
p.E641fs
c.1921_1922fs
1 paper
NM_001206744.2
p.E641delFs
c.1921delG
1 paper
NM_001206744.2
p.N642D
c.1924A>G
1 paper
NM_001206744.2
p.L644L
c.1932C>T
1 paper
NM_001206744.2
p.P645insFs
c.1934_1935insG
1 paper
NM_001206744.2
p.A647_P651delFs
c.1941_1951del11
1 paper
NM_001206744.2
p.W635C
c.1905G>C
1 paper
NM_001206744.2
p.A647T
c.1939G>A
1 paper
NM_175722.3
p.W462R
c.1384T>C
1 paper
NM_001206744.2
p.V634_W635Fs
c.1902_1903delinsCFs
1 paper
NM_001206744.2
p.R648G
c.1942C>G
1 paper
NM_001206744.2
p.R648W
c.1942C>T
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