Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R284G

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.R284G
c.850A>G
Surrounding Variants
8 papers
NM_033629.6
p.R284fs
c.850_851fs
4 papers
NM_033629.6
p.R284fs
c.850_851fs
1 paper
NM_033629.6
p.R284insFs
c.850_851insA
1 paper
NM_033629.6
p.R284M
c.851G>T
1 paper
NM_033629.6
p.S283C
c.848C>G
1 paper
NM_033629.6
p.R284S
c.852G>C
1 paper
NM_033629.6
p.R284S
c.852G>T
2 papers
NM_033629.6
p.E285fs
c.853_854fs
1 paper
NM_033629.6
p.E285*
c.853G>T
1 paper
NM_033629.6
p.G286insFs
c.857_858insG
1 paper
NM_033629.6
p.E285V
c.854A>T
3 papers
NM_033629.6
p.G286delFs
c.858delG
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