Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.L882_P883insQ

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.L882_P883insQ
c.2644_2648ins3
Surrounding Variants
19 papers
NM_001206744.2
p.P883S
c.2647C>T
1 paper
NM_001206744.2
p.E886_K898insFs
c.2658_2692dup35
1 paper
NM_001206744.2
p.R875S
c.2623C>A
1 paper
NM_001206744.2
p.R875fs
c.2623_2624fs
2 papers
NM_001206744.2
p.G889R
c.2665G>A
NM_175721.3
p.G845R
c.2533G>A
2 papers
NM_001206744.2
p.G889R
c.2665G>C
NM_175721.3
p.G845R
c.2533G>C
1 paper
NM_001206744.2
p.G889*
c.2665G>T
1 paper
NM_175722.3
p.R702del1
c.2104_2106delCGC
4 papers
NM_001206744.2
p.G890E
c.2669G>A
2 papers
NM_001206744.2
p.W873*
c.2619G>A
1 paper
NM_001206744.2
p.W873Splc
c.2619-2A>T
1 paper
NM_001206744.2
p.T891_K898insFs
c.2673_2692dup20
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