Varaico: Literature-Extracted Genetic Variants

Gene:DIO2
Variant:p.T102I

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
2 papers
NM_013989.5
p.T102I
c.305C>T
Surrounding Variants
1 paper
NM_013989.5
p.K105T
c.314A>C
1 paper
NM_013989.5
p.I106T
c.317T>C
1 paper
NM_013989.5
p.C112R
c.334T>C
1 paper
NM_013989.5
p.T92S
c.274A>T
130 papers
NM_013989.5
p.T92A
c.274A>G
1 paper
NM_013989.5
p.S91S
c.273T>C
1 paper
NM_013989.5
p.V86V
c.258G>A
1 paper
NM_013989.5
p.S85S
c.255T>C
1 paper
NM_013989.5
p.P120S
c.358C>T
1 paper
NM_013989.5
p.S84C
c.251C>G
2 papers
NM_013989.5
p.D80V
c.239A>T
1 paper
NM_013989.5
p.A131S
c.391G>T
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