Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L186_Y187insFs

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
Selected Variant
1 paper
NM_033629.6
p.L186_Y187insFs
c.558_559insC
Surrounding Variants
1 paper
NM_033629.6
p.Y187_G188insG
c.559_563ins3
1 paper
NM_033629.6
p.L186L
c.556C>T
1 paper
NM_033629.6
p.R185H
c.554G>A
1 paper
NM_033629.6
p.G188R
c.562G>A
1 paper
NM_033629.6
p.R185P
c.554G>C
1 paper
NM_033629.6
p.G188R
c.562G>C
1 paper
NM_033629.6
p.L186_P191insFs
c.558_573dup16
1 paper
NM_033629.6
p.L186_P191delFs
c.558_573del16
1 paper
NM_033629.6
p.R185G
c.553C>G
8 papers
NM_033629.6
p.R185C
c.553C>T
1 paper
NM_033629.6
p.G188E
c.563G>A
1 paper
NM_033629.6
p.G188A
c.563G>C
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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."