Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D278V

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.D278V
c.833A>T
Surrounding Variants
1 paper
NM_033629.6
p.D278E
c.834C>G
1 paper
NM_033629.6
p.D278N
c.832G>A
4 papers
NM_033629.6
p.D278fs
c.832_833fs
5 papers
NM_033629.6
p.D278fs
c.832_833fs
2 papers
NM_033629.6
p.K277R
c.830A>G
1 paper
NM_033629.6
p.P279H
c.836C>A
1 paper
NM_033629.6
p.K277*
c.829A>T
2 papers
NM_033629.6
p.G280delFs
c.839delG
1 paper
NM_033629.6
p.G280_E285del0
c.838_855del18
1 paper
NM_033629.6
p.G280R
c.838G>A
1 paper
NM_033629.6
p.G280R
c.838G>C
1 paper
NM_033629.6
p.V276_L282delins
c.828_846delinsG
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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."