Varaico: Literature-Extracted Genetic Variants

Gene:DIO2
Variant:p.R191R

DIO2

171 papers

RefSeq Summary

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone...

Pfam Domains

T4_deiodinaseaa 4–262UCSCIodothyronine deiodinase

Gene Aliases

HGNC Name

iodothyronine deiodinase 2

HGNC Alias Symbols

TXDI2; SelY; SELENOY

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013989.5
p.R191R
c.573A>G
Surrounding Variants
1 paper
NM_013989.5
p.N220N
c.660C>T
1 paper
NM_013989.5
p.S152L
c.455C>T
1 paper
NM_013989.5
p.L146L
c.436C>T
2 papers
NM_013989.5
p.A239T
c.715G>A
1 paper
NM_013989.5
p.G245S
c.733G>A
1 paper
NM_013989.5
p.A131S
c.391G>T
1 paper
NM_013989.5
p.E259G
c.776A>G
1 paper
NM_013989.5
p.P120S
c.358C>T
1 paper
NM_013989.5
p.C112R
c.334T>C
1 paper
NM_013989.5
p.I106T
c.317T>C
1 paper
NM_013989.5
p.K105T
c.314A>C
2 papers
NM_013989.5
p.T102I
c.305C>T
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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."