Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D200H

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
24 papers
NM_033629.6
p.D200H
c.598G>C
Surrounding Variants
41 papers
NM_033629.6
p.D200N
c.598G>A
2 papers
NM_033629.6
p.D200Y
c.598G>T
3 papers
NM_033629.6
p.D200A
c.599A>C
5 papers
NM_033629.6
p.D200_V201ins0
c.599_601dupATG
1 paper
NM_033629.6
p.V201fs
c.601_602fs
25 papers
NM_033629.6
p.V201D
c.602T>A
1 paper
NM_033629.6
p.L202fs
c.604_605fs
14 papers
NM_033629.6
p.E198K
c.592G>A
1 paper
NM_033629.6
p.L202R
c.605T>G
1 paper
NM_033629.6
p.A197V
c.590C>T
1 paper
NM_033629.6
p.A197T
c.589G>A
1 paper
NM_033629.6
p.A203T
c.607G>A
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