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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIB3

TRIB3

214 papers

RefSeq Summary

The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cel...

Pfam Domains

Pkinaseaa 78–315UCSCProtein kinase domain

Gene Aliases

HGNC Name

tribbles pseudokinase 3

HGNC Previous Symbol

C20orf97

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 130 variants

46 papers

chr20:388261 A>G

NM_021158.5

p.Q84R

c.251A>G

Pkinase

Exome: 17.2% (AC=251193, hom=24591)Genome: 16.5% (AC=25109, hom=2264)12 overlapping SVs

6 papers

chr20:391432 G>A

NM_021158.5

p.S146N

c.437G>A

Pkinase

Exome: 0.8% (AC=11183, hom=77)Genome: 0.5% (AC=761, hom=3)15 overlapping SVs

6 papers

chr20:391536 C>T

NM_021158.5

p.R181C

c.541C>T

Pkinase

Exome: 0.1% (AC=1678, hom=2)Genome: 0.1% (AC=106, hom=0)15 overlapping SVs

5 papers

chr20:391453 G>A

NM_021158.5

p.R153H

c.458G>A

Pkinase

Exome: 1.5% (AC=22205, hom=296)Genome: 1.2% (AC=1790, hom=19)15 overlapping SVs

4 papers

chr20:391528 T>C

NM_021158.5

p.L178P

c.533T>C

Pkinase

Exome: 0.0% (AC=95, hom=3)Genome: 0.0% (AC=9, hom=0)15 overlapping SVs

3 papers

chr20:388165 C>T

NM_021158.5

p.P52L

c.155C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 overlapping SVs

3 papers

chr20:388246 G>C

NM_021158.5

p.G79A

c.236G>C

Pkinase

Exome: 0.0% (AC=534, hom=2)Genome: 0.0% (AC=48, hom=0)12 overlapping SVs

3 papers

chr20:391314 G>A

NM_021158.5

p.V107M

c.319G>A

Pkinase

Exome: 0.4% (AC=5487, hom=24)Genome: 0.3% (AC=406, hom=0)14 overlapping SVs

2 papers

chr20:388117 G>A

NM_021158.5

p.R36Q

c.107G>A

Exome: 0.1% (AC=1373, hom=10)Genome: 0.2% (AC=269, hom=0)12 overlapping SVs

2 papers

chr20:388210 G>A

NM_021158.5

p.R67H

c.200G>A

Exome: 0.1% (AC=928, hom=3)Genome: 0.4% (AC=541, hom=4)12 overlapping SVs

2 papers

chr20:396314 G>A

NM_021158.5

p.R234Q

c.701G>A

Pkinase

Exome: 0.0% (AC=254, hom=0)Genome: 0.0% (AC=26, hom=0)13 overlapping SVs

2 papers

chr20:396439 G>A

NM_021158.5

p.G276R

c.826G>A

Pkinase

Exome: 0.1% (AC=1711, hom=3)Genome: 0.1% (AC=114, hom=0)13 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."