Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L69L

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.L69L
c.205C>T
Surrounding Variants
1 paper
NM_033629.6
p.L69insFs
c.206dupT
4 papers
NM_033629.6
p.V71insFs
c.212_213dupTG
4 papers
NM_033629.6
p.L69delFs
c.206_207delTG
3 papers
NM_033629.6
p.L69P
c.206T>C
2 papers
NM_033629.6
p.L69_C70insFs
c.207_208insG
1 paper
NM_033629.6
p.C70S
c.208T>A
1 paper
NM_033629.6
p.C70R
c.208T>C
1 paper
NM_033629.6
p.S68A
c.202T>G
1 paper
NM_033629.6
p.C70S
c.209G>C
1 paper
NM_033629.6
p.V71M
c.211G>A
2 papers
NM_033629.6
p.V71fs
c.211_212fs
1 paper
NM_033629.6
p.V71fs
c.211_212fs
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