Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.V276_L282delins

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.V276_L282delins
c.828_846delinsG
Surrounding Variants
1 paper
NM_033629.6
p.K277*
c.829A>T
2 papers
NM_033629.6
p.K277_D278insFs
c.830_833dup4
2 papers
NM_033629.6
p.K277R
c.830A>G
1 paper
NM_033629.6
p.P275L
c.824C>T
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
1 paper
NM_033629.6
p.D278V
c.833A>T
2 papers
NM_033629.6
p.P275fs
c.823_824fs
4 papers
NM_033629.6
p.P275fs
c.823_824fs
1 paper
NM_033629.6
p.D278E
c.834C>G
1 paper
NM_033629.6
p.P275del1
c.823_824delCCA
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