Varaico: Literature-Extracted Genetic Variants

Gene:TREX1

TREX1

454 papers

RefSeq Summary

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene resu...

Gene Aliases

HGNC Name

three prime repair exonuclease 1

HGNC Previous Symbol

AGS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 783 variants
98 papers
NM_033629.6
p.D18N
c.52G>A
75 papers
NM_033629.6
p.R114H
c.341G>A
41 papers
NM_033629.6
p.D200N
c.598G>A
38 papers
NM_033629.6
p.V235fs
c.703_704fs
26 papers
NM_033629.6
p.Q98insFs
c.294dupA
25 papers
NM_033629.6
p.V201D
c.602T>A
24 papers
NM_033629.6
p.D200H
c.598G>C
22 papers
NM_033629.6
p.R97H
c.290G>A
19 papers
NM_033629.6
p.Y305C
c.914A>G
18 papers
NM_033629.6
p.D272fs
c.814_815fs
15 papers
NM_033629.6
p.G306A
c.917G>C
14 papers
NM_033629.6
p.C99fs
c.295_296fs
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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."