Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P48L

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_007248.5
p.P48L
c.143C>T
NM_033629.6
p.P58L
c.173C>T
Surrounding Variants
4 papers
NM_033629.6
p.P58_P59insG
c.172_176ins3
2 papers
NM_007248.5
p.P48S
c.142C>T
NM_033629.6
p.P58S
c.172C>T
1 paper
NM_033629.6
p.P58fs
c.172_173fs
1 paper
NM_033629.6
p.P59S
c.175C>T
3 papers
NM_033629.6
p.P59P
c.177A>T
7 papers
NM_033629.6
p.P61Q
c.182C>A
1 paper
NM_033629.6
p.P61R
c.182C>G
2 papers
NM_033629.6
p.P61L
c.182C>T
1 paper
NM_033629.6
p.T56delFs
c.167_168delCA
1 paper
NM_033629.6
p.P55S
c.163C>T
1 paper
NM_033629.6
p.P61P
c.183G>A
1 paper
NM_033629.6
p.R62G
c.184C>G
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