Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S167N

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.S167N
c.500G>A
Surrounding Variants
4 papers
NM_033629.6
p.S167fs
c.499_500fs
4 papers
NM_033629.6
p.S167delFs
c.500delG
4 papers
NM_033629.6
p.S167fs
c.499_500fs
1 paper
NM_033629.6
p.S166T
c.497G>C
1 paper
NM_033629.6
p.S167_P168del2
c.499_503del6
2 papers
NM_033629.6
p.S169*
c.506C>A
1 paper
NM_033629.6
p.A165E
c.494C>A
1 paper
NM_033629.6
p.S169*
c.506C>G
1 paper
NM_033629.6
p.E170K
c.508G>A
2 papers
NM_033629.6
p.E170*
c.508G>T
1 paper
NM_033629.6
p.E170A
c.509A>C
1 paper
NM_033629.6
p.E170G
c.509A>G
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