Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.F177L

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.F177L
c.529T>C
Surrounding Variants
1 paper
NM_130398.4
p.F177I
c.529T>A
1 paper
NM_130398.4
p.F177S
c.530T>C
1 paper
NM_130398.4
p.F177insFs
c.530_531ins17
1 paper
NM_130398.4
p.G178R
c.532G>C
1 paper
NM_130398.4
p.L174L
c.522C>A
1 paper
NM_130398.4
p.C179Y
c.536G>A
1 paper
NM_130398.4
p.K181delFs
c.542delA
1 paper
NM_130398.4
p.K180R
c.539A>G
52 papers
NM_130398.4
p.D173A
c.518A>C
1 paper
NM_130398.4
p.K181fs
c.541_542fs
1 paper
NM_130398.4
p.K181E
c.541A>G
1 paper
NM_130398.4
p.K181M
c.542A>T
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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."