Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.F226L

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.F226L
c.678C>G
Surrounding Variants
1 paper
NM_033629.6
p.F226L
c.678C>A
9 papers
NM_033629.6
p.G227S
c.679G>A
1 paper
NM_033629.6
p.F226L
c.676T>C
1 paper
NM_033629.6
p.T228ins1
c.683_684insCAT
1 paper
NM_033629.6
p.T228I
c.683C>T
1 paper
NM_033629.6
p.I229V
c.685A>G
1 paper
NM_033629.6
p.R224M
c.671G>T
1 paper
NM_033629.6
p.R230W
c.688A>T
11 papers
NM_033629.6
p.A223T
c.667G>A
1 paper
NM_033629.6
p.R230K
c.689G>A
1 paper
NM_033629.6
p.H222Q
c.666C>A
1 paper
NM_033629.6
p.H222Q
c.666C>G
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