Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.S652L

EXO1

925 papers

RefSeq Summary

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involve...

Pfam Domains

XPG_Naa 1–99UCSCXPG N-terminal domain
XPG_Iaa 141–225UCSCXPG I-region

Gene Aliases

HGNC Name

exonuclease 1

HGNC Alias Symbols

HEX1; hExoI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130398.4
p.S652L
c.1955C>T
Surrounding Variants
1 paper
NM_130398.4
p.S652A
c.1954T>G
1 paper
NM_130398.4
p.V651M
c.1951G>A
1 paper
NM_130398.4
p.Q653H
c.1959G>T
1 paper
NM_130398.4
p.L654L
c.1960T>C
1 paper
NM_130398.4
p.D650Y
c.1948G>T
1 paper
NM_130398.4
p.S649_D650insFs
c.1947_1948insA
3 papers
NM_130398.4
p.E657K
c.1969G>A
1 paper
NM_130398.4
p.E657Q
c.1969G>C
1 paper
NM_130398.4
p.E658A
c.1973A>C
1 paper
NM_130398.4
p.P644S
c.1930C>T
1 paper
NM_130398.4
p.L643F
c.1929G>C
1 paper
NM_130398.4
p.L643F
c.1929G>T
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