Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P275del1

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.P275del1
c.823_824delCCA
Surrounding Variants
2 papers
NM_033629.6
p.P275fs
c.823_824fs
1 paper
NM_033629.6
p.P274L
c.821C>T
4 papers
NM_033629.6
p.P275fs
c.823_824fs
1 paper
NM_033629.6
p.P274delFs
c.822delT
1 paper
NM_033629.6
p.P274S
c.820C>T
1 paper
NM_033629.6
p.P275L
c.824C>T
1 paper
NM_033629.6
p.L273V
c.817C>G
1 paper
NM_033629.6
p.L273F
c.817C>T
2 papers
NM_033629.6
p.K277_D278insFs
c.830_833dup4
1 paper
NM_033629.6
p.V276_L282delins
c.828_846delinsG
1 paper
NM_033629.6
p.D272A
c.815A>C
1 paper
NM_033629.6
p.K277*
c.829A>T
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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."