Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L216P

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.L216P
c.647T>C
Surrounding Variants
1 paper
NM_033629.6
p.R217insFs
c.649_650insG
1 paper
NM_033629.6
p.R217W
c.649C>T
2 papers
NM_033629.6
p.R217Q
c.650G>A
1 paper
NM_033629.6
p.R217R
c.651G>A
1 paper
NM_033629.6
p.A214V
c.641C>T
1 paper
NM_033629.6
p.W218ins1
c.653_654insCAT
1 paper
NM_033629.6
p.W218L
c.653G>T
1 paper
NM_033629.6
p.A214T
c.640G>A
1 paper
NM_033629.6
p.W218C
c.654G>C
1 paper
NM_033629.6
p.W218C
c.654G>T
1 paper
NM_033629.6
p.V219M
c.655G>A
1 paper
NM_033629.6
p.Q213R
c.638A>G
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