Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L273V

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.L273V
c.817C>G
Surrounding Variants
1 paper
NM_033629.6
p.L273F
c.817C>T
1 paper
NM_033629.6
p.D272A
c.815A>C
1 paper
NM_033629.6
p.P274S
c.820C>T
18 papers
NM_033629.6
p.D272fs
c.814_815fs
5 papers
NM_033629.6
p.D272fs
c.814_815fs
1 paper
NM_033629.6
p.P274L
c.821C>T
1 paper
NM_033629.6
p.P274delFs
c.822delT
1 paper
NM_033629.6
p.K271N
c.813G>C
1 paper
NM_033629.6
p.K271N
c.813G>T
2 papers
NM_033629.6
p.K271R
c.812A>G
1 paper
NM_033629.6
p.D272delFs
c.814delG
1 paper
NM_033629.6
p.P275del1
c.823_824delCCA
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