Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S46fs

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.S46fs
c.136_137fs
Surrounding Variants
1 paper
NM_033629.6
p.S46N
c.137G>A
10 papers
NM_033629.6
p.P48insFs
c.144dupC
2 papers
NM_033629.6
p.P48delFs
c.144delC
1 paper
NM_033629.6
p.P48delFs
c.143_144delCC
1 paper
NM_033629.6
p.P48del1
c.142_143delCCC
1 paper
NM_033629.6
p.P47T
c.139C>A
1 paper
NM_033629.6
p.E45*
c.133G>T
1 paper
NM_033629.6
p.P47H
c.140C>A
1 paper
NM_033629.6
p.P47R
c.140C>G
1 paper
NM_033629.6
p.L44_E45delins
c.132_134delinsAAG
1 paper
NM_033629.6
p.P47_P48delins
c.141_142delinsTT
1 paper
NM_033629.6
p.L44P
c.131T>C
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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."