Varaico: Literature-Extracted Genetic Variants

Gene:DIO1
Variant:p.M201I

DIO1

44 papers

RefSeq Summary

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respe...

Pfam Domains

T4_deiodinaseaa 8–248UCSCIodothyronine deiodinase

Gene Aliases

HGNC Name

iodothyronine deiodinase 1

HGNC Previous Symbol

TXDI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000792.7
p.M201I
c.603G>C
Surrounding Variants
5 papers
NM_000792.7
p.M201I
c.603G>A
5 papers
NM_000792.7
p.M201I
c.603G>T
1 paper
NM_001039715.3
p.S157delFs
c.469delA
1 paper
NM_000792.7
p.L186I
c.556C>A
1 paper
NM_001039715.3
p.R132H
c.395G>A
1 paper
NM_000792.7
p.Y226H
c.676T>C
1 paper
NM_000792.7
p.N176Y
c.526A>T
1 paper
NM_000792.7
p.H174Q
c.522C>A
1 paper
NM_000792.7
p.H174Q
c.522C>G
1 paper
NM_000792.7
p.D161Splc
c.482-40C>T
1 paper
NM_000792.7
p.T125S
c.374C>G
1 paper
NM_000792.7
p.T125A
c.373A>G
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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."