Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S88fs

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
3 papers
NM_033629.6
p.S88fs
c.262_263fs
Surrounding Variants
7 papers
NM_033629.6
p.S88insFs
c.262_263insAG
4 papers
NM_033629.6
p.S88fs
c.262_263fs
1 paper
NM_033629.6
p.S88I
c.263G>T
1 paper
NM_033629.6
p.L87P
c.260T>C
3 papers
NM_033629.6
p.L87insFs
c.260_261insAG
1 paper
NM_033629.6
p.L87L
c.259C>T
1 paper
NM_033629.6
p.T89K
c.266C>A
1 paper
NM_033629.6
p.T89I
c.266C>T
1 paper
NM_033629.6
p.G86S
c.256G>A
1 paper
NM_033629.6
p.A90T
c.268G>A
2 papers
NM_033629.6
p.A90V
c.269C>T
1 paper
NM_033629.6
p.V91M
c.271G>A
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