Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.D143E

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
2 papers
NM_130398.4
p.D143E
c.429T>A
Surrounding Variants
2 papers
NM_130398.4
p.D143E
c.429T>G
1 paper
NM_130398.4
p.C144R
c.430T>C
1 paper
NM_130398.4
p.D143N
c.427G>A
1 paper
NM_130398.4
p.C144S
c.431G>C
1 paper
NM_130398.4
p.D143_L145del3
c.427_434del9
1 paper
NM_130398.4
p.V142E
c.425T>A
1 paper
NM_130398.4
p.V142A
c.425T>C
1 paper
NM_130398.4
p.V146M
c.436G>A
3 papers
NM_130398.4
p.G141R
c.421G>A
3 papers
NM_130398.4
p.G141R
c.421G>C
1 paper
NM_130398.4
p.G141W
c.421G>T
1 paper
NM_130398.4
p.Q140Q
c.420G>A
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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."