Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.A214V

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.A214V
c.641C>T
Surrounding Variants
1 paper
NM_033629.6
p.A214T
c.640G>A
1 paper
NM_033629.6
p.Q213R
c.638A>G
1 paper
NM_033629.6
p.L216P
c.647T>C
13 papers
NM_033629.6
p.P212fs
c.634_635fs
4 papers
NM_033629.6
p.P212fs
c.634_635fs
2 papers
NM_033629.6
p.R211S
c.633A>C
2 papers
NM_033629.6
p.R211S
c.633A>T
4 papers
NM_033629.6
p.P212delFs
c.635delC
2 papers
NM_033629.6
p.P212_Q213del2
c.634_638del6
1 paper
NM_033629.6
p.R217insFs
c.649_650insG
1 paper
NM_033629.6
p.R217W
c.649C>T
2 papers
NM_033629.6
p.R217Q
c.650G>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."