Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L6L

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.L6L
c.16C>T
Surrounding Variants
1 paper
NM_033629.6
p.L6P
c.17T>C
1 paper
NM_033629.6
p.A5D
c.14C>A
1 paper
NM_033629.6
p.P7fs
c.19_20fs
1 paper
NM_033629.6
p.P7S
c.19C>T
1 paper
NM_033629.6
p.P7R
c.20C>G
1 paper
NM_033629.6
p.Q4R
c.11A>G
1 paper
NM_033629.6
p.Q4L
c.11A>T
1 paper
NM_033629.6
p.Q4K
c.10C>A
1 paper
NM_033629.6
p.P8A
c.22C>G
1 paper
NM_033629.6
p.Q4*
c.10C>T
1 paper
NM_033629.6
p.G9insFs
c.27dupG
1 paper
NM_033629.6
p.P8L
c.23C>T
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