Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.P640S

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
6 papers
NM_130398.4
p.P640S
c.1918C>T
Surrounding Variants
6 papers
NM_130398.4
p.P640A
c.1918C>G
1 paper
NM_130398.4
p.S637S
c.1911C>T
2 papers
NM_130398.4
p.L643*
c.1928T>A
1 paper
NM_130398.4
p.L643F
c.1929G>C
1 paper
NM_130398.4
p.L643F
c.1929G>T
1 paper
NM_130398.4
p.P644S
c.1930C>T
2 papers
NM_130398.4
p.R634Q
c.1901G>A
3 papers
NM_130398.4
p.R634*
c.1900C>T
2 papers
NM_130398.4
p.Q632Q
c.1896G>A
1 paper
NM_130398.4
p.S649_D650insFs
c.1947_1948insA
1 paper
NM_130398.4
p.D650Y
c.1948G>T
1 paper
NM_130398.4
p.L630V
c.1888T>G
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