Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.N99H

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.N99H
c.295A>C
Surrounding Variants
2 papers
NM_130398.4
p.N99insFs
c.296_297insC
1 paper
NM_130398.4
p.Q97L
c.290A>T
2 papers
NM_130398.4
p.Q97K
c.289C>A
1 paper
NM_130398.4
p.L101insFs
c.302dupT
1 paper
NM_130398.4
p.Q97*
c.289C>T
1 paper
NM_130398.4
p.L101R
c.302T>G
1 paper
NM_130398.4
p.L101L
c.303T>A
1 paper
NM_130398.4
p.G103_K104del2
c.307_311del6
1 paper
NM_130398.4
p.K102E
c.304A>G
1 paper
NM_130398.4
p.R96*
c.286C>T
1 paper
NM_130398.4
p.R95S
c.285A>C
1 paper
NM_130398.4
p.K102M
c.305A>T
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