Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.C42W

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.C42W
c.126T>G
Surrounding Variants
1 paper
NM_033629.6
p.C42*
c.126T>A
1 paper
NM_033629.6
p.C42Y
c.125G>A
1 paper
NM_033629.6
p.A43T
c.127G>A
1 paper
NM_033629.6
p.A43S
c.127G>T
1 paper
NM_033629.6
p.A43D
c.128C>A
1 paper
NM_033629.6
p.C42R
c.124T>C
1 paper
NM_033629.6
p.L44P
c.131T>C
1 paper
NM_033629.6
p.L44_E45delins
c.132_134delinsAAG
1 paper
NM_033629.6
p.E45*
c.133G>T
1 paper
NM_033629.6
p.H40Y
c.118C>T
1 paper
NM_033629.6
p.S46fs
c.136_137fs
1 paper
NM_033629.6
p.S46N
c.137G>A
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