Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.H253R

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.H253R
c.758A>G
Surrounding Variants
1 paper
NM_033629.6
p.H253D
c.757C>G
1 paper
NM_033629.6
p.H253Y
c.757C>T
1 paper
NM_033629.6
p.L254V
c.760C>G
1 paper
NM_033629.6
p.A252E
c.755C>A
1 paper
NM_033629.6
p.A252V
c.755C>T
1 paper
NM_033629.6
p.L254P
c.761T>C
1 paper
NM_033629.6
p.A252T
c.754G>A
1 paper
NM_033629.6
p.T251I
c.752C>T
1 paper
NM_033629.6
p.T256fs
c.766_767fs
1 paper
NM_033629.6
p.T256delFs
c.767delC
1 paper
NM_033629.6
p.T256fs
c.766_767fs
1 paper
NM_033629.6
p.T250T
c.750C>A
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