Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.Q523R

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.Q523R
c.1568A>G
Surrounding Variants
1 paper
NM_130398.4
p.S521I
c.1562G>T
4 papers
NM_130398.4
p.D526fs
c.1576_1577fs
3 papers
NM_130398.4
p.D526_E527delFs
c.1578_1579delTG
1 paper
NM_130398.4
p.K519R
c.1556A>G
3 papers
NM_130398.4
p.K519E
c.1555A>G
1 paper
NM_130398.4
p.T528S
c.1583C>G
1 paper
NM_130398.4
p.A529V
c.1586C>T
1 paper
NM_130398.4
p.V516A
c.1547T>C
1 paper
NM_130398.4
p.D514A
c.1541A>C
1 paper
NM_130398.4
p.K533E
c.1597A>G
1 paper
NM_130398.4
p.D511H
c.1531G>C
1 paper
NM_130398.4
p.S510*
c.1529C>A
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