Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.F506L

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.F506L
c.1518T>G
Surrounding Variants
1 paper
NM_130398.4
p.F506L
c.1518T>A
1 paper
NM_130398.4
p.F506L
c.1516T>C
1 paper
NM_130398.4
p.F506fs
c.1516_1517fs
2 papers
NM_130398.4
p.C508insFs
c.1522dupT
3 papers
NM_130398.4
p.C508delFs
c.1522delT
1 paper
NM_130398.4
p.C508fs
c.1522_1523fs
1 paper
NM_130398.4
p.C508*
c.1524C>A
1 paper
NM_130398.4
p.C508_S509ins4
c.1524_1525ins12
1 paper
NM_130398.4
p.R505Splc
c.1515-6T>C
1 paper
NM_130398.4
p.S510*
c.1529C>A
1 paper
NM_130398.4
p.S510*
c.1529C>G
1 paper
NM_130398.4
p.D511H
c.1531G>C
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