Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.K175N

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
2 papers
NM_033629.6
p.K175N
c.525G>C
Surrounding Variants
2 papers
NM_033629.6
p.K175N
c.525G>T
1 paper
NM_033629.6
p.Y177insFs
c.530_531ins17
3 papers
NM_033629.6
p.K175R
c.524A>G
1 paper
NM_033629.6
p.S176G
c.526A>G
1 paper
NM_033629.6
p.S176I
c.527G>T
1 paper
NM_033629.6
p.R174K
c.521G>A
1 paper
NM_033629.6
p.Y177delFs
c.530delA
1 paper
NM_033629.6
p.Y177fs
c.529_530fs
3 papers
NM_033629.6
p.R174G
c.520A>G
1 paper
NM_033629.6
p.Y177C
c.530A>G
1 paper
NM_033629.6
p.R174delFs
c.522delG
1 paper
NM_033629.6
p.Y177Y
c.531T>C
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