Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.M232fs

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
5 papers
NM_033629.6
p.M232fs
c.694_695fs
Surrounding Variants
4 papers
NM_033629.6
p.M232V
c.694A>G
3 papers
NM_033629.6
p.M232R
c.695T>G
1 paper
NM_033629.6
p.M232I
c.696G>A
1 paper
NM_033629.6
p.M232I
c.696G>C
1 paper
NM_033629.6
p.M232I
c.696G>T
1 paper
NM_033629.6
p.R230S
c.690G>C
4 papers
NM_033629.6
p.P231insFs
c.693dupC
1 paper
NM_033629.6
p.R230S
c.690G>T
1 paper
NM_033629.6
p.R230K
c.689G>A
12 papers
NM_033629.6
p.V235insFs
c.703dupG
1 paper
NM_033629.6
p.R230W
c.688A>T
1 paper
NM_033629.6
p.G234W
c.700G>T
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