Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.P297S

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.P297S
c.889C>T
Surrounding Variants
1 paper
NM_130398.4
p.P297L
c.890C>T
1 paper
NM_130398.4
p.I296S
c.887T>G
2 papers
NM_130398.4
p.I296_P297insC
c.886_890ins3
1 paper
NM_130398.4
p.L298L
c.894G>A
3 papers
NM_130398.4
p.N299S
c.896A>G
1 paper
NM_130398.4
p.K294E
c.880A>G
1 paper
NM_130398.4
p.A300T
c.898G>A
1 paper
NM_130398.4
p.A300V
c.899C>T
1 paper
NM_130398.4
p.R293K
c.878G>A
1 paper
NM_130398.4
p.R293G
c.877A>G
1 paper
NM_130398.4
p.Y301C
c.902A>G
1 paper
NM_130398.4
p.R293_D304delFs
c.877_910del34
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