Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L287fs

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
14 papers
NM_033629.6
p.L287fs
c.859_860fs
Surrounding Variants
6 papers
NM_033629.6
p.L287fs
c.859_860fs
13 papers
NM_033629.6
p.L287_G292del6
c.859_875del18
1 paper
NM_033629.6
p.L287P
c.860T>C
2 papers
NM_033629.6
p.G286E
c.857G>A
1 paper
NM_033629.6
p.G286V
c.857G>T
1 paper
NM_033629.6
p.G286R
c.856G>A
1 paper
NM_033629.6
p.G286R
c.856G>C
1 paper
NM_033629.6
p.G286insFs
c.857_858insG
1 paper
NM_033629.6
p.E285V
c.854A>T
3 papers
NM_033629.6
p.G286delFs
c.858delG
2 papers
NM_033629.6
p.E285fs
c.853_854fs
1 paper
NM_033629.6
p.E285*
c.853G>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."