Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.K135_A136Splc

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.K135_A136Splc
c.405+1G>C
Surrounding Variants
1 paper
NM_130398.4
p.K135E
c.403A>G
1 paper
NM_130398.4
p.K135_A136Splc
c.405+5G>A
1 paper
NM_130398.4
p.H131R
c.392A>G
1 paper
NM_130398.4
p.H131Y
c.391C>T
3 papers
NM_130398.4
p.A130V
c.389C>T
1 paper
NM_130398.4
p.M129L
c.385A>T
1 paper
NM_130398.4
p.A128A
c.384C>G
1 paper
NM_130398.4
p.A128G
c.383C>G
3 papers
NM_130398.4
p.H127R
c.380A>G
1 paper
NM_130398.4
p.T126A
c.376A>G
1 paper
NM_130398.4
p.I125M
c.375C>G
1 paper
NM_130398.4
p.I125T
c.374T>C
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