Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A397fs

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
9 papers
NM_001206744.2
p.A397fs
c.1189_1190fs
Surrounding Variants
1 paper
NM_001206744.2
p.A397fs
c.1189_1190fs
1 paper
NM_001206744.2
p.R396insFs
c.1187_1188ins4
1 paper
NM_001206744.2
p.R396G
c.1186C>G
4 papers
NM_001206744.2
p.R396C
c.1186C>T
28 papers
NM_001206744.2
p.S398T
c.1193G>C
1 paper
NM_001206744.2
p.E399_T404del6
c.1195_1211del18
1 paper
NM_001206744.2
p.G395D
c.1184G>A
1 paper
NM_001206744.2
p.G395A
c.1184G>C
1 paper
NM_001206744.2
p.E399K
c.1195G>A
1 paper
NM_001206744.2
p.G395R
c.1183G>C
1 paper
NM_001206744.2
p.D394_G395insFs
c.1182_1183ins4
22 papers
NM_001206744.2
p.G395_R396insFs
c.1184_1187dup4
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