Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.Q213R

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.Q213R
c.638A>G
Surrounding Variants
1 paper
NM_033629.6
p.A214T
c.640G>A
1 paper
NM_033629.6
p.A214V
c.641C>T
13 papers
NM_033629.6
p.P212fs
c.634_635fs
4 papers
NM_033629.6
p.P212fs
c.634_635fs
2 papers
NM_033629.6
p.R211S
c.633A>C
2 papers
NM_033629.6
p.R211S
c.633A>T
4 papers
NM_033629.6
p.P212delFs
c.635delC
2 papers
NM_033629.6
p.P212_Q213del2
c.634_638del6
1 paper
NM_033629.6
p.R211K
c.632G>A
1 paper
NM_033629.6
p.R211I
c.632G>T
1 paper
NM_033629.6
p.R211fs
c.631_632fs
2 papers
NM_033629.6
p.W210*
c.630G>A
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