Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.Q389*

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.Q389*
c.1165C>T
Surrounding Variants
1 paper
NM_130398.4
p.P388P
c.1164A>G
1 paper
NM_130398.4
p.P388fs
c.1162_1163fs
2 papers
NM_130398.4
p.L390F
c.1170G>C
2 papers
NM_130398.4
p.L390F
c.1170G>T
1 paper
NM_130398.4
p.E392K
c.1174G>A
1 paper
NM_130398.4
p.S385*
c.1154C>G
1 paper
NM_130398.4
p.T383P
c.1147A>C
1 paper
NM_130398.4
p.G382D
c.1145G>A
1 paper
NM_130398.4
p.G382R
c.1144G>C
1 paper
NM_130398.4
p.P379Q
c.1136C>A
1 paper
NM_130398.4
p.P379S
c.1135C>T
1 paper
NM_130398.4
p.V399L
c.1195G>T
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