Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S246S

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.S246S
c.738T>A
Surrounding Variants
1 paper
NM_033629.6
p.A247T
c.739G>A
11 papers
NM_033629.6
p.A247P
c.739G>C
1 paper
NM_033629.6
p.A247_V248insA
c.739_743ins3
1 paper
NM_033629.6
p.A247D
c.740C>A
2 papers
NM_033629.6
p.A247V
c.740C>T
1 paper
NM_033629.6
p.S246fs
c.736_737fs
1 paper
NM_033629.6
p.P245P
c.735A>T
1 paper
NM_033629.6
p.S246_A255del10
c.736_764del30
1 paper
NM_033629.6
p.A247A
c.741T>A
4 papers
NM_033629.6
p.A247_V248insFs
c.741_742ins4
1 paper
NM_033629.6
p.P245R
c.734C>G
1 paper
NM_033629.6
p.P245L
c.734C>T
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."