Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.R378S

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.R378S
c.1134A>T
Surrounding Variants
1 paper
NM_130398.4
p.R378S
c.1134A>C
1 paper
NM_130398.4
p.P379S
c.1135C>T
1 paper
NM_130398.4
p.R378G
c.1132A>G
1 paper
NM_130398.4
p.P379Q
c.1136C>A
1 paper
NM_130398.4
p.R378_P379del2
c.1132_1136del6
1 paper
NM_130398.4
p.P377_R378del2
c.1129_1133del6
6 papers
NM_130398.4
p.Y375C
c.1124A>G
1 paper
NM_130398.4
p.G382R
c.1144G>C
1 paper
NM_130398.4
p.G382D
c.1145G>A
1 paper
NM_130398.4
p.T383P
c.1147A>C
2 papers
NM_130398.4
p.R373G
c.1117A>G
1 paper
NM_130398.4
p.H372P
c.1115A>C
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