Varaico: Literature-Extracted Genetic Variants

Gene:EXO5

EXO5

57 papers

RefSeq Summary

The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sl...

Pfam Domains

Exo5aa 71–196UCSCExonuclease V - a 5' deoxyribonuclease
Exo5aa 258–355UCSCExonuclease V - a 5' deoxyribonuclease

Gene Aliases

HGNC Name

exonuclease 5

HGNC Previous Symbols

C1orf176; DEM1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
12 papers
NM_001346953.2
p.G172V
c.515G>T
8 papers
NM_001346953.2
p.D115N
c.343G>A
8 papers
NM_001346953.2
p.L151P
c.452T>C
3 papers
NM_001346953.2
p.M204V
c.610A>G
3 papers
NM_001346953.2
p.R344fs
c.1030_1031fs
2 papers
NM_001346953.2
p.E247K
c.739G>A
2 papers
NM_001346953.2
p.V265fs
c.793_794fs
2 papers
NM_001346953.2
p.C343_R344insFs
c.1029_1030insG
1 paper
NM_001346953.2
p.A2S
c.4G>T
1 paper
NM_001346953.2
p.T4T
c.12A>T
1 paper
NM_001346953.2
p.E6A
c.17A>C
1 paper
NM_001346953.2
p.E7Q
c.19G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."