Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S194delFs

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
3 papers
NM_033629.6
p.S194delFs
c.581delC
Surrounding Variants
1 paper
NM_033629.6
p.S194fs
c.580_581fs
1 paper
NM_033629.6
p.S194W
c.581C>G
2 papers
NM_033629.6
p.S194L
c.581C>T
2 papers
NM_033629.6
p.D193A
c.578A>C
1 paper
NM_033629.6
p.D193G
c.578A>G
8 papers
NM_033629.6
p.H195Y
c.583C>T
9 papers
NM_033629.6
p.H195Q
c.585C>A
9 papers
NM_033629.6
p.H195Q
c.585C>G
1 paper
NM_033629.6
p.T196A
c.586A>G
1 paper
NM_033629.6
p.T196M
c.587C>T
1 paper
NM_033629.6
p.A197delFs
c.589delG
1 paper
NM_033629.6
p.T196T
c.588G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."