Annotation Detail
Information
- Associated Genes
- APEX1
- Associated Variants
-
APEX1 p.Gln51His (p.Q51H)
(
ENST00000216714.8,
ENST00000555414.5,
ENST00000398030.8,
ENST00000557054.1 )
APEX1 p.Ile64Val (p.I64V) ( ENST00000216714.8, ENST00000555414.5, ENST00000557054.1, ENST00000398030.8 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000557054.1, ENST00000398030.8, ENST00000216714.8, ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
APEX1 p.Arg237Cys (p.R237C) ( ENST00000216714.8, ENST00000555414.5, ENST00000398030.8, ENST00000557054.1 )
APEX1 p.Gly241Arg (p.G241R) ( ENST00000216714.8, ENST00000555414.5, ENST00000398030.8, ENST00000557054.1 )
APEX1 p.Pro311Ser (p.P311S) ( ENST00000557054.1, ENST00000398030.8, ENST00000555414.5, ENST00000216714.8 )
APEX1 p.Ala317Val (p.A317V) ( ENST00000555414.5, ENST00000216714.8, ENST00000398030.8, ENST00000557054.1 )
APEX1 p.Gln51His (p.Q51H) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Ile64Val (p.I64V) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Arg237Cys (p.R237C) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Gly241Arg (p.G241R) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Pro311Ser (p.P311S) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Ala317Val (p.A317V) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- uterine corpus cancer
- Source Database
- DisGeNET
- Description
- Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorphic variants Q51H, I64V and D148E, the rare population variants G241R, P311S and A317V, and the tumor-associated variant P112L exhibit normal thermodynamic stability of protein folding; abasic endonuclease, 3'-5' exonuclease and REF-1 activities; coordination during the early steps of base excision repair; and intracellular distribution when expressed exogenously in HeLa cells.
- Pubmed
- 23776569
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs