Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.V122A

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
10 papers
NM_033629.6
p.V122A
c.365T>C
Surrounding Variants
4 papers
NM_033629.6
p.V122_A123ins0
c.366_368dupGGC
1 paper
NM_033629.6
p.A123P
c.367G>C
2 papers
NM_033629.6
p.H124D
c.370C>G
1 paper
NM_033629.6
p.H124Y
c.370C>T
1 paper
NM_033629.6
p.N125insFs
c.373dupA
1 paper
NM_033629.6
p.H124H
c.372C>T
1 paper
NM_033629.6
p.C120_H124del0
c.359_370del12
2 papers
NM_033629.6
p.N125fs
c.373_374fs
4 papers
NM_033629.6
p.W119*
c.357G>A
1 paper
NM_033629.6
p.W119C
c.357G>C
1 paper
NM_033629.6
p.W119C
c.357G>T
7 papers
NM_033629.6
p.N125insFs
c.375dupT
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