Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.L107R

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.L107R
c.320T>G
Surrounding Variants
1 paper
NM_130398.4
p.L107V
c.319C>G
15 papers
NM_130398.4
p.E109K
c.325G>A
1 paper
NM_130398.4
p.K104K
c.312G>A
2 papers
NM_130398.4
p.G103E
c.308G>A
1 paper
NM_130398.4
p.G103insFs
c.309dupA
1 paper
NM_130398.4
p.G103delFs
c.309delA
1 paper
NM_130398.4
p.K111N
c.333A>C
1 paper
NM_130398.4
p.K111N
c.333A>T
1 paper
NM_130398.4
p.G103R
c.307G>A
1 paper
NM_130398.4
p.G103R
c.307G>C
2 papers
NM_130398.4
p.K102K
c.306G>A
1 paper
NM_130398.4
p.V112I
c.334G>A
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