Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L138L

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.L138L
c.412C>T
Surrounding Variants
1 paper
NM_033629.6
p.L138V
c.412C>G
1 paper
NM_033629.6
p.E137A
c.410A>C
1 paper
NM_033629.6
p.A139delFs
c.415_416delGC
1 paper
NM_033629.6
p.A139T
c.415G>A
5 papers
NM_033629.6
p.E137fs
c.409_410fs
2 papers
NM_033629.6
p.A139fs
c.415_416fs
1 paper
NM_033629.6
p.E137_L138insC
c.409_413ins3
5 papers
NM_033629.6
p.E137fs
c.409_410fs
2 papers
NM_033629.6
p.A139delFs
c.416delC
4 papers
NM_033629.6
p.A139fs
c.415_416fs
2 papers
NM_033629.6
p.A136V
c.407C>T
1 paper
NM_033629.6
p.M140V
c.418A>G
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