C2 c.745C>A ;(p.R249S)

Variant ID: 6-31901972-C-A

NM_000063.4(C2):c.745C>A;(p.R249S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: rs771081314
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein.

Frontiers In Immunology
Urban, Aleksandra A; Kowalska, Daria D; Stasiłojć, Grzegorz G; Kuźniewska, Alicja A; Skrobińska, Anna A; Arjona, Emilia E; Alonso, Eugenia Castellote EC; Fenollosa Segarra, María Ángeles MÁ; Jongerius, Ilse I; Spaapen, Robbert R; Satchell, Simon S; Thiel, Marcel M; Ołdziej, Stanisław S; Rodriguez de Córdoba, Santiago S; Okrój, Marcin M
Publication Date: 2021

Variant appearance in text: rs771081314
PubMed Link: 34899688
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page