Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S206_I207del2

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.S206_I207del2
c.616_620del6
Surrounding Variants
1 paper
NM_033629.6
p.S206G
c.616A>G
1 paper
NM_033629.6
p.S206N
c.617G>A
1 paper
NM_033629.6
p.A203V
c.608C>T
1 paper
NM_033629.6
p.I207fs
c.619_620fs
1 paper
NM_033629.6
p.I207_C208insG
c.619_623ins3
1 paper
NM_033629.6
p.A203T
c.607G>A
1 paper
NM_033629.6
p.C208insFs
c.622dupT
1 paper
NM_033629.6
p.I207M
c.621C>G
1 paper
NM_033629.6
p.C208_Q209delFs
c.622_626del5
1 paper
NM_033629.6
p.L202R
c.605T>G
1 paper
NM_033629.6
p.L202fs
c.604_605fs
2 papers
NM_033629.6
p.C208S
c.622T>A
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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."