Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.Q135E

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.Q135E
c.403C>G
Surrounding Variants
3 papers
NM_033629.6
p.Q135*
c.403C>T
1 paper
NM_033629.6
p.Q135P
c.404A>C
1 paper
NM_033629.6
p.Q135R
c.404A>G
1 paper
NM_033629.6
p.L134H
c.401T>A
2 papers
NM_033629.6
p.L134P
c.401T>C
1 paper
NM_033629.6
p.L134fs
c.400_401fs
1 paper
NM_033629.6
p.L134F
c.400C>T
2 papers
NM_033629.6
p.A136V
c.407C>T
3 papers
NM_033629.6
p.L133fs
c.397_398fs
1 paper
NM_033629.6
p.L133V
c.397C>G
6 papers
NM_033629.6
p.L133fs
c.397_398fs
NM_007248.5
p.L123fs
c.367_368fs
5 papers
NM_033629.6
p.E137fs
c.409_410fs
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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."