Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L143_T144del2

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.L143_T144del2
c.427_431del6
Surrounding Variants
1 paper
NM_033629.6
p.G142D
c.425G>A
1 paper
NM_033629.6
p.G142A
c.425G>C
1 paper
NM_033629.6
p.L143V
c.427C>G
1 paper
NM_033629.6
p.L143F
c.427C>T
1 paper
NM_033629.6
p.T144S
c.430A>T
1 paper
NM_033629.6
p.M140I
c.420G>A
1 paper
NM_033629.6
p.M140I
c.420G>C
1 paper
NM_033629.6
p.M140I
c.420G>T
1 paper
NM_033629.6
p.T144S
c.431C>G
1 paper
NM_033629.6
p.M140T
c.419T>C
1 paper
NM_033629.6
p.M140V
c.418A>G
2 papers
NM_033629.6
p.S145N
c.434G>A
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