Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D127E

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.D127E
c.381C>G
Surrounding Variants
1 paper
NM_033629.6
p.D127E
c.381C>A
1 paper
NM_033629.6
p.D127D
c.381C>T
1 paper
NM_033629.6
p.D127V
c.380A>T
1 paper
NM_033629.6
p.R128C
c.382C>T
14 papers
NM_033629.6
p.R128H
c.383G>A
5 papers
NM_033629.6
p.G126fs
c.376_377fs
1 paper
NM_033629.6
p.G126delFs
c.377_378delGT
5 papers
NM_033629.6
p.G126fs
c.376_377fs
1 paper
NM_033629.6
p.N125N
c.375T>C
7 papers
NM_033629.6
p.N125insFs
c.375dupT
3 papers
NM_033629.6
p.N125S
c.374A>G
6 papers
NM_033629.6
p.D130N
c.388G>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."