CR1 c.6373G>C ;(p.V2125L)

Variant ID: 1-207785099-G-C

NM_000651.4(CR1):c.6373G>C;(p.V2125L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Blood Advances
Jadhao, Sudhir S; Davison, Candice C; Roulis, Eileen V EV; Lee, Simon S; Lacaze, Paul P; Riaz, Moeen M; McNeil, John J JJ; Thomas, David M DM; Pecheniuk, Natalie M NM; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-08-09

Variant appearance in text: N/A
PubMed Link: 35420653
Variant Present in the following documents:
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-01-13

Variant appearance in text: N/A
PubMed Link: 35033986
Variant Present in the following documents:
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-02

Variant appearance in text: N/A
PubMed Link: 35033986
Variant Present in the following documents:
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: N/A
PubMed Link: 30385747
Variant Present in the following documents:
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: N/A
PubMed Link: 30380422
Variant Present in the following documents:
View BVdb publication page



Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

Nature Communications
Savola, P P; Kelkka, T T; Rajala, H L HL; Kuuliala, A A; Kuuliala, K K; Eldfors, S S; Ellonen, P P; Lagström, S S; Lepistö, M M; Hannunen, T T; Andersson, E I EI; Khajuria, R K RK; Jaatinen, T T; Koivuniemi, R R; Repo, H H; Saarela, J J; Porkka, K K; Leirisalo-Repo, M M; Mustjoki, S S
Publication Date: 2017-06-21

Variant appearance in text: CR1: V2125L
PubMed Link: 28635960
Variant Present in the following documents:
  • ncomms15869-s2.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: CR1: 6373G>C; V2125L
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page