Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.S446G

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.S446G
c.1336A>G
Surrounding Variants
1 paper
NM_130398.4
p.S446N
c.1337G>A
1 paper
NM_130398.4
p.S447_E448ins0
c.1339_1344dup6
1 paper
NM_130398.4
p.N450S
c.1349A>G
1 paper
NM_130398.4
p.K441_T442del2
c.1321_1325del6
1 paper
NM_130398.4
p.K440T
c.1319A>C
21 papers
NM_130398.4
p.T439M
c.1316C>T
1 paper
NM_130398.4
p.T439delFs
c.1317delG
1 paper
NM_130398.4
p.L453W
c.1358T>G
1 paper
NM_130398.4
p.L453F
c.1359G>C
1 paper
NM_130398.4
p.L453F
c.1359G>T
1 paper
NM_130398.4
p.S456A
c.1366T>G
1 paper
NM_130398.4
p.S456Y
c.1367C>A
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