Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S167fs

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
4 papers
NM_033629.6
p.S167fs
c.499_500fs
Surrounding Variants
4 papers
NM_033629.6
p.S167delFs
c.500delG
4 papers
NM_033629.6
p.S167fs
c.499_500fs
1 paper
NM_033629.6
p.S167N
c.500G>A
1 paper
NM_033629.6
p.S166T
c.497G>C
1 paper
NM_033629.6
p.S167_P168del2
c.499_503del6
1 paper
NM_033629.6
p.A165E
c.494C>A
2 papers
NM_033629.6
p.S169*
c.506C>A
1 paper
NM_033629.6
p.S169*
c.506C>G
1 paper
NM_033629.6
p.R164Q
c.491G>A
1 paper
NM_033629.6
p.R164P
c.491G>C
13 papers
NM_033629.6
p.R164*
c.490C>T
1 paper
NM_033629.6
p.E170K
c.508G>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."