Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.S559L

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.S559L
c.1676C>T
Surrounding Variants
1 paper
NM_130398.4
p.S560N
c.1679G>A
1 paper
NM_130398.4
p.N558_S559insC
c.1672_1676ins3
1 paper
NM_130398.4
p.R557H
c.1670G>A
1 paper
NM_130398.4
p.R557C
c.1669C>T
1 paper
NM_130398.4
p.P564S
c.1690C>T
1 paper
NM_130398.4
p.P564P
c.1692G>C
1 paper
NM_130398.4
p.D554insFs
c.1660dupG
1 paper
NM_130398.4
p.D552A
c.1655A>C
1 paper
NM_130398.4
p.V551V
c.1653T>A
1 paper
NM_130398.4
p.L550Q
c.1649T>A
1 paper
NM_130398.4
p.I568I
c.1704T>C
1 paper
NM_130398.4
p.G547G
c.1641C>T
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