Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.Q4K

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.Q4K
c.10C>A
Surrounding Variants
1 paper
NM_033629.6
p.Q4*
c.10C>T
1 paper
NM_033629.6
p.Q4R
c.11A>G
1 paper
NM_033629.6
p.Q4L
c.11A>T
1 paper
NM_033629.6
p.S3S
c.9G>A
1 paper
NM_033629.6
p.S3*
c.8C>A
1 paper
NM_033629.6
p.S3L
c.8C>T
1 paper
NM_033629.6
p.A5D
c.14C>A
1 paper
NM_033629.6
p.G2G
c.6C>T
1 paper
NM_033629.6
p.G2V
c.5G>T
1 paper
NM_033629.6
p.L6L
c.16C>T
1 paper
NM_033629.6
p.G2S
c.4G>A
1 paper
NM_033629.6
p.G2fs
c.4_5fs
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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."