Varaico: Literature-Extracted Genetic Variants

Gene:DIO2
Variant:p.W64R

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
5 papers
NM_013989.5
p.W64R
c.190T>C
Surrounding Variants
5 papers
NM_013989.5
p.W64R
c.190T>A
1 paper
NM_013989.5
p.E58D
c.174G>C
1 paper
NM_013989.5
p.Y72*
c.216C>G
1 paper
NM_013989.5
p.Y72*
c.216C>A
1 paper
NM_013989.5
p.L55M
c.163C>A
2 papers
NM_013989.5
p.R52W
c.154C>T
1 paper
NM_013989.5
p.W51R
c.151T>C
1 paper
NM_013989.5
p.W51R
c.151T>A
1 paper
NM_013989.5
p.G49R
c.145G>C
1 paper
NM_013989.5
p.S44S
c.132C>T
1 paper
NM_013989.5
p.V38_L39insFs
c.114_115insCT
1 paper
NM_013989.5
p.V38V
c.114G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."