Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L179P

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
2 papers
NM_033629.6
p.L179P
c.536T>C
Surrounding Variants
1 paper
NM_033629.6
p.G180_S181insFs
c.539_542dup4
1 paper
NM_033629.6
p.G180S
c.538G>A
1 paper
NM_033629.6
p.Y177Y
c.531T>C
1 paper
NM_033629.6
p.Y177C
c.530A>G
1 paper
NM_033629.6
p.Y177delFs
c.530delA
1 paper
NM_033629.6
p.Y177fs
c.529_530fs
1 paper
NM_033629.6
p.I182fs
c.544_545fs
1 paper
NM_033629.6
p.I182fs
c.544_545fs
1 paper
NM_033629.6
p.S176I
c.527G>T
1 paper
NM_033629.6
p.Y177insFs
c.530_531ins17
1 paper
NM_033629.6
p.S176G
c.526A>G
1 paper
NM_033629.6
p.I182M
c.546C>G
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