SI c.535G>C ;(p.E179Q)

Variant ID: 3-164785228-C-G

NM_001041.3(SI):c.535G>C;(p.E179Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

Bmc Nephrology
Besbas, Nesrin N; Gulhan, Bora B; Soylemezoglu, Oguz O; Ozcakar, Z Birsin ZB; Korkmaz, Emine E; Hayran, Mutlu M; Ozaltin, Fatih F
Publication Date: 2017-01-05

Variant appearance in text: SI: 535G>C; Glu179Gln
PubMed Link: 28056875
Variant Present in the following documents:
  • 12882_2016_Article_420.pdf
View BVdb publication page



Mutational analysis of Kaposica reveals that bridging of MG2 and CUB domains of target protein is crucial for the cofactor activity of RCA proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gautam, Avneesh Kumar AK; Panse, Yogesh Y; Ghosh, Payel P; Reza, Malik Johid MJ; Mullick, Jayati J; Sahu, Arvind A
Publication Date: 2015-10-13

Variant appearance in text: SI: E179Q
PubMed Link: 26420870
Variant Present in the following documents:
  • Main text
View BVdb publication page