Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.M140V

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.M140V
c.418A>G
Surrounding Variants
1 paper
NM_033629.6
p.M140T
c.419T>C
1 paper
NM_033629.6
p.M140I
c.420G>A
1 paper
NM_033629.6
p.M140I
c.420G>C
1 paper
NM_033629.6
p.M140I
c.420G>T
1 paper
NM_033629.6
p.A139T
c.415G>A
2 papers
NM_033629.6
p.A139fs
c.415_416fs
2 papers
NM_033629.6
p.A139delFs
c.416delC
4 papers
NM_033629.6
p.A139fs
c.415_416fs
1 paper
NM_033629.6
p.A139delFs
c.415_416delGC
1 paper
NM_033629.6
p.L138V
c.412C>G
1 paper
NM_033629.6
p.L138L
c.412C>T
1 paper
NM_033629.6
p.G142D
c.425G>A
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."