Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S82_T85delFs

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.S82_T85delFs
c.246_255del10
Surrounding Variants
1 paper
NM_033629.6
p.S82T
c.245G>C
1 paper
NM_033629.6
p.S82fs
c.244_245fs
1 paper
NM_033629.6
p.S82R
c.244A>C
8 papers
NM_033629.6
p.S82fs
c.244_245fs
1 paper
NM_033629.6
p.S82R
c.246C>A
1 paper
NM_033629.6
p.S82R
c.246C>G
4 papers
NM_033629.6
p.E83K
c.247G>A
1 paper
NM_033629.6
p.E83Q
c.247G>C
1 paper
NM_033629.6
p.E83insFs
c.247_248insA
2 papers
NM_033629.6
p.E83fs
c.247_248fs
1 paper
NM_033629.6
p.E83G
c.248A>G
1 paper
NM_033629.6
p.A81V
c.242C>T
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