Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P79L

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.P79L
c.236C>T
Surrounding Variants
1 paper
NM_033629.6
p.P79fs
c.235_236fs
2 papers
NM_033629.6
p.P79_A81delFs
c.237_243del7
4 papers
NM_033629.6
p.A81_S82delFs
c.243_246del4
2 papers
NM_033629.6
p.A80insFs
c.240dupA
1 paper
NM_033629.6
p.A80G
c.239C>G
1 paper
NM_033629.6
p.A80delins
c.239_240delinsGG
1 paper
NM_033629.6
p.S78I
c.233G>T
1 paper
NM_033629.6
p.A81T
c.241G>A
4 papers
NM_033629.6
p.A81fs
c.241_242fs
1 paper
NM_033629.6
p.A81V
c.242C>T
1 paper
NM_033629.6
p.C77R
c.229T>C
1 paper
NM_033629.6
p.C77fs
c.229_230fs
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