Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L293V

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.L293V
c.877C>G
Surrounding Variants
1 paper
NM_033629.6
p.G292D
c.875G>A
3 papers
NM_033629.6
p.L294_A295insA
c.880_884ins3
5 papers
NM_033629.6
p.G292_L293insA
c.874_878ins3
1 paper
NM_033629.6
p.A295del1
c.883_884delGCC
1 paper
NM_033629.6
p.L291M
c.871C>A
13 papers
NM_033629.6
p.P290L
c.869C>T
3 papers
NM_033629.6
p.P290fs
c.868_869fs
1 paper
NM_033629.6
p.P290S
c.868C>T
1 paper
NM_033629.6
p.P290del1
c.868_869delCCA
1 paper
NM_033629.6
p.A289V
c.866C>T
1 paper
NM_033629.6
p.A289fs
c.865_866fs
2 papers
NM_033629.6
p.T298S
c.892A>T
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."