Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P53delins

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.P53delins
c.158_159delinsAT
Surrounding Variants
2 papers
NM_033629.6
p.P54H
c.161C>A
1 paper
NM_033629.6
p.G52A
c.155G>C
1 paper
NM_033629.6
p.G52W
c.154G>T
1 paper
NM_033629.6
p.P55S
c.163C>T
1 paper
NM_033629.6
p.Q51H
c.153G>C
1 paper
NM_033629.6
p.Q51H
c.153G>T
1 paper
NM_033629.6
p.Q51P
c.152A>C
1 paper
NM_033629.6
p.Q51R
c.152A>G
1 paper
NM_033629.6
p.T56delFs
c.167_168delCA
1 paper
NM_033629.6
p.Q51fs
c.151_152fs
1 paper
NM_033629.6
p.Q51*
c.151C>T
4 papers
NM_033629.6
p.Q51delFs
c.152_153delAG
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