Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.I182M

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.I182M
c.546C>G
Surrounding Variants
1 paper
NM_033629.6
p.I182fs
c.544_545fs
1 paper
NM_033629.6
p.Y183C
c.548A>G
1 paper
NM_033629.6
p.I182fs
c.544_545fs
1 paper
NM_033629.6
p.T184I
c.551C>T
1 paper
NM_033629.6
p.R185G
c.553C>G
8 papers
NM_033629.6
p.R185C
c.553C>T
1 paper
NM_033629.6
p.G180S
c.538G>A
1 paper
NM_033629.6
p.R185H
c.554G>A
1 paper
NM_033629.6
p.R185P
c.554G>C
1 paper
NM_033629.6
p.L186_P191insFs
c.558_573dup16
1 paper
NM_033629.6
p.L186_P191delFs
c.558_573del16
1 paper
NM_033629.6
p.L186L
c.556C>T
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