Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.A247A

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.A247A
c.741T>A
Surrounding Variants
4 papers
NM_033629.6
p.A247_V248insFs
c.741_742ins4
1 paper
NM_033629.6
p.A247D
c.740C>A
2 papers
NM_033629.6
p.A247V
c.740C>T
1 paper
NM_033629.6
p.V248fs
c.742_743fs
1 paper
NM_033629.6
p.A247T
c.739G>A
11 papers
NM_033629.6
p.A247P
c.739G>C
1 paper
NM_033629.6
p.A247_V248insA
c.739_743ins3
1 paper
NM_033629.6
p.T250_H253delFs
c.748_758del11
1 paper
NM_033629.6
p.V248V
c.744C>G
1 paper
NM_033629.6
p.S246S
c.738T>A
9 papers
NM_033629.6
p.T249fs
c.745_746fs
5 papers
NM_033629.6
p.T249fs
c.745_746fs
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