Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.K30E

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
2 papers
NM_033629.6
p.K30E
c.88A>G
Surrounding Variants
3 papers
NM_033629.6
p.K30R
c.89A>G
1 paper
NM_033629.6
p.P29S
c.85C>T
1 paper
NM_033629.6
p.V31I
c.91G>A
1 paper
NM_033629.6
p.Q28R
c.83A>G
1 paper
NM_033629.6
p.T32S
c.94A>T
9 papers
NM_033629.6
p.T32R
c.95C>G
2 papers
NM_033629.6
p.T32M
c.95C>T
1 paper
NM_033629.6
p.S27F
c.80C>T
1 paper
NM_033629.6
p.T32T
c.96G>A
1 paper
NM_033629.6
p.E33V
c.98A>T
2 papers
NM_033629.6
p.S27_T32del0
c.79_96del18
1 paper
NM_033629.6
p.F26S
c.77T>C
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