Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.F100fs

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.F100fs
c.298_299fs
Surrounding Variants
1 paper
NM_033629.6
p.F100L
c.298T>C
2 papers
NM_033629.6
p.F100fs
c.298_299fs
1 paper
NM_033629.6
p.F100S
c.299T>C
1 paper
NM_033629.6
p.C99Y
c.296G>A
1 paper
NM_033629.6
p.F100L
c.300T>A
1 paper
NM_033629.6
p.F100L
c.300T>G
1 paper
NM_033629.6
p.D101N
c.301G>A
1 paper
NM_033629.6
p.D101H
c.301G>C
1 paper
NM_033629.6
p.C99R
c.295T>C
1 paper
NM_033629.6
p.C99insFs
c.295_296insA
2 papers
NM_033629.6
p.C99fs
c.295_296fs
14 papers
NM_033629.6
p.C99fs
c.295_296fs
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