Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P243R

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.P243R
c.728C>G
Surrounding Variants
3 papers
NM_033629.6
p.P243_S246del4
c.727_737del12
1 paper
NM_033629.6
p.K242R
c.725A>G
1 paper
NM_033629.6
p.R244R
c.732A>G
1 paper
NM_033629.6
p.P245S
c.733C>T
1 paper
NM_033629.6
p.T241S
c.722C>G
1 paper
NM_033629.6
p.P245R
c.734C>G
1 paper
NM_033629.6
p.P245L
c.734C>T
1 paper
NM_033629.6
p.P245delFs
c.735delA
1 paper
NM_033629.6
p.T241S
c.721A>T
1 paper
NM_033629.6
p.P245P
c.735A>T
1 paper
NM_033629.6
p.S246_A255del10
c.736_764del30
10 papers
NM_033629.6
p.R240S
c.720G>C
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