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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIO2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 43 variants

130 papers

chr14:80203237 T>C

NM_013989.5

p.T92A

c.274A>G

T4_deiodinase

Exome: 37.7% (AC=548354, hom=105533)Genome: 39.6% (AC=59382, hom=12048)13 overlapping SVs

27 papers

chr14:80211381 A>T

NM_013989.5

p.V31D

c.92T>A

T4_deiodinase

exact variant not in gnomAD14 overlapping SVs

5 papers

chr14:80211283 A>G

NM_013989.5

p.W64R

c.190T>C

T4_deiodinase

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

5 papers

chr14:80211283 A>T

NM_013989.5

p.W64R

c.190T>A

T4_deiodinase

exact variant not in gnomAD13 overlapping SVs

3 papers

chr14:80211462 A>T

NM_013989.5

p.L4H

c.11T>A

T4_deiodinase

Exome: 0.1% (AC=1045, hom=0)Genome: 0.1% (AC=96, hom=0)14 overlapping SVs

2 papers

chr14:80211319 G>A

NM_013989.5

p.R52W

c.154C>T

T4_deiodinase

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

2 papers

chr14:80203272 T>A

NM_013989.5

p.D80V

c.239A>T

T4_deiodinase

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

2 papers

chr14:80203206 G>A

NM_013989.5

p.T102I

c.305C>T

T4_deiodinase

Exome: 0.0% (AC=201, hom=0)Genome: 0.0% (AC=7, hom=0)13 overlapping SVs

2 papers

chr14:80202796 C>T

NM_013989.5

p.A239T

c.715G>A

T4_deiodinase

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:80211472 T>C

NM_013989.5

p.M1V

c.1A>G

exact variant not in gnomAD14 overlapping SVs

1 paper

chr14:80211453 T>C

NM_013989.5

p.D7G

c.20A>G

T4_deiodinase

exact variant not in gnomAD14 overlapping SVs

1 paper

chr14:80211439 G>A

NM_013989.5

p.L12L

c.34C>T

T4_deiodinase

exact variant not in gnomAD14 overlapping SVs

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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."