PC c.1058A>C ;(p.E353A)

Variant ID: 11-66633785-T-G

NM_001040716.1(PC):c.1058A>C;(p.E353A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PC: E353A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Monoclonal antibodies targeting the disintegrin-like domain of ADAMDEC1 modulates the proteolytic activity and enables quantification of ADAMDEC1 protein in human plasma.

Mabs
Lund, Jacob J; Elimar Bitsch, Anne Mette AM; Grønbech Rasch, Morten M; Enoksson, Mari M; Troeberg, Linda L; Nagase, Hideaki H; Loftager, Mette M; Overgaard, Michael Toft MT; Petersen, Helle Heibroch HH
Publication Date: 2018-01

Variant appearance in text: PC: E353A
PubMed Link: 29185848
Variant Present in the following documents:
  • Main text
View BVdb publication page



ADAMDEC1 is a metzincin metalloprotease with dampened proteolytic activity.

The Journal Of Biological Chemistry
Lund, Jacob J; Olsen, Ole H OH; Sørensen, Esben S ES; Stennicke, Henning R HR; Petersen, Helle H HH; Overgaard, Michael T MT
Publication Date: 2013-07-19

Variant appearance in text: PC: E353A
PubMed Link: 23754285
Variant Present in the following documents:
  • Main text
View BVdb publication page