Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R62C

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.R62C
c.184C>T
Surrounding Variants
1 paper
NM_033629.6
p.R62G
c.184C>G
2 papers
NM_033629.6
p.R62H
c.185G>A
1 paper
NM_033629.6
p.P61P
c.183G>A
1 paper
NM_033629.6
p.R62P
c.185G>C
1 paper
NM_033629.6
p.R62L
c.185G>T
7 papers
NM_033629.6
p.P61Q
c.182C>A
1 paper
NM_033629.6
p.P61R
c.182C>G
2 papers
NM_033629.6
p.P61L
c.182C>T
1 paper
NM_033629.6
p.V63insFs
c.187_188insG
1 paper
NM_033629.6
p.V63M
c.187G>A
2 papers
NM_033629.6
p.V63fs
c.187_188fs
3 papers
NM_033629.6
p.P59P
c.177A>T
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