Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.P906L

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.P906L
c.2717C>T
Surrounding Variants
1 paper
NM_001206744.2
p.R908_Q912del0
c.2722_2736del15
1 paper
NM_175722.3
p.Q734Q
c.2202G>A
1 paper
NM_001206744.2
p.T904N
c.2711C>A
1 paper
NM_001206744.2
p.G903E
c.2708G>A
2 papers
NM_001206744.2
p.V902I
c.2704G>A
1 paper
NM_001206744.2
p.D913fs
c.2737_2738fs
1 paper
NM_001206744.2
p.H899Y
c.2695C>T
1 paper
NM_001206744.2
p.C896*
c.2688C>A
1 paper
NM_001206744.2
p.Q916_E917insG
c.2746_2750ins3
2 papers
NM_001206744.2
p.Q916Q
c.2748G>A
1 paper
NM_001206744.2
p.E893K
c.2677G>A
1 paper
NM_001206744.2
p.T891_K898insFs
c.2673_2692dup20
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."