C1RL c.*312G>A

Variant ID: 12-7248675-C-T

NM_016546.2(C1RL):c.*312G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs3782928
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance.

Scientific Reports
Guo, Jianping J; Gao, Yanyan Y; Wang, Yuxuan Y; Zou, Yundong Y; Du, Yan Y; Luo, Cainan C; Shi, Yamei Y; Yang, Yue Y; Wu, Xinyu X; Su, Yin Y; Wu, Lijun L; Chen, Shi S; Li, Zhanguo Z
Publication Date: 2018-05-23

Variant appearance in text: rs3782928
PubMed Link: 29795138
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26380.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs3782928
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Polymorphisms in complement system genes and risk of non-Hodgkin lymphoma.

Environmental And Molecular Mutagenesis
Bassig, Bryan A BA; Zheng, Tongzhang T; Zhang, Yawei Y; Berndt, Sonja I SI; Holford, Theodore R TR; Hosgood, H Dean HD; Hu, Wei W; Leaderer, Brian B; Yeager, Meredith M; Menashe, Idan I; Boyle, Peter P; Xu, Jun J; Zou, Kaiyong K; Zhu, Yong Y; Chanock, Stephen S; Rothman, Nathaniel N; Lan, Qing Q
Publication Date: 2012-03

Variant appearance in text: rs3782928
PubMed Link: 22170086
Variant Present in the following documents:
  • Main text
View BVdb publication page