C2 c.749C>G ;(p.S250C)

Variant ID: 6-31901976-C-G

NM_000063.4(C2):c.749C>G;(p.S250C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs150827255
PubMed Link: 34899688
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics
de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP
Publication Date: 2016-02

Variant appearance in text: rs150827255
PubMed Link: 26901136
Variant Present in the following documents:
  • pgen.1005880.s003.xlsx, sheet 1
View BVdb publication page