STIM2 c.283-27T>C

Variant ID: 4-26959207-T-C

NM_020860.3(STIM2):c.283-27T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3792685
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs3792685
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs3792685
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.

Pain
Cook-Sather, Scott D SD; Li, Jin J; Goebel, Theodora K TK; Sussman, Emily M EM; Rehman, Mohamed A MA; Hakonarson, Hakon H
Publication Date: 2014-09

Variant appearance in text: rs3792685
PubMed Link: 24909733
Variant Present in the following documents:
  • Main text
View BVdb publication page