Varaico: Literature-Extracted Genetic Variants

Gene:DIO2
Variant:p.L4H

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
3 papers
NM_013989.5
p.L4H
c.11T>A
Surrounding Variants
1 paper
NM_013989.5
p.D7G
c.20A>G
1 paper
NM_013989.5
p.M1V
c.1A>G
1 paper
NM_013989.5
p.L12L
c.34C>T
1 paper
NM_013989.5
p.L12M
c.34C>A
1 paper
NM_013989.5
p.S20insFs
c.58dupT
27 papers
NM_013989.5
p.V31D
c.92T>A
1 paper
NM_013989.5
p.I32_L33insFs
c.96_97ins5
1 paper
NM_013989.5
p.L33R
c.98T>G
1 paper
NM_013989.5
p.V38A
c.113T>C
1 paper
NM_013989.5
p.V38_L39insFs
c.114_115insCT
1 paper
NM_013989.5
p.V38V
c.114G>C
1 paper
NM_013989.5
p.S44S
c.132C>T
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