Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.G306R

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.G306R
c.916G>C
Surrounding Variants
1 paper
NM_033629.6
p.G306R
c.916G>A
2 papers
NM_033629.6
p.G306*
c.916G>T
1 paper
NM_033629.6
p.G306E
c.917G>A
15 papers
NM_033629.6
p.G306A
c.917G>C
19 papers
NM_033629.6
p.Y305C
c.914A>G
1 paper
NM_033629.6
p.L304L
c.912G>A
1 paper
NM_033629.6
p.Y305_G306del2
c.913_917del6
1 paper
NM_033629.6
p.L304fs
c.910_911fs
1 paper
NM_033629.6
p.L304_Y305delFs
c.912_913delGT
1 paper
NM_033629.6
p.L304fs
c.910_911fs
3 papers
NM_033629.6
p.S308C
c.923C>G
1 paper
NM_033629.6
p.T303I
c.908C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."