Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P173S

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.P173S
c.517C>T
Surrounding Variants
3 papers
NM_033629.6
p.R174G
c.520A>G
1 paper
NM_033629.6
p.R174delFs
c.522delG
2 papers
NM_033629.6
p.G172S
c.514G>A
1 paper
NM_033629.6
p.R174K
c.521G>A
2 papers
NM_033629.6
p.H171delFs
c.513delC
1 paper
NM_033629.6
p.H171fs
c.511_512fs
3 papers
NM_033629.6
p.K175R
c.524A>G
1 paper
NM_033629.6
p.E170A
c.509A>C
1 paper
NM_033629.6
p.E170G
c.509A>G
2 papers
NM_033629.6
p.K175N
c.525G>C
2 papers
NM_033629.6
p.K175N
c.525G>T
1 paper
NM_033629.6
p.Y177insFs
c.530_531ins17
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