Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R114H

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
75 papers
NM_033629.6
p.R114H
c.341G>A
Surrounding Variants
2 papers
NM_033629.6
p.R114L
c.341G>T
10 papers
NM_033629.6
p.R114C
c.340C>T
1 paper
NM_033629.6
p.Q115*
c.343C>T
1 paper
NM_033629.6
p.Q115R
c.344A>G
2 papers
NM_033629.6
p.R113Q
c.338G>A
1 paper
NM_033629.6
p.R113G
c.337C>G
2 papers
NM_033629.6
p.R113W
c.337C>T
2 papers
NM_033629.6
p.Q115H
c.345G>C
2 papers
NM_033629.6
p.Q115H
c.345G>T
2 papers
NM_033629.6
p.P116A
c.346C>G
1 paper
NM_007248.5
p.L102L
c.306G>A
1 paper
NM_033629.6
p.P116_Q117insFs
c.348_351dup4
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