CALR c.701_702del ;(p.E234Gfs*10)

Variant ID: 19-13051263-TGA-T

NM_004343.3(CALR):c.701_702del;(p.E234Gfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021

Variant appearance in text: CALR: 701_702del; E234fs
PubMed Link: 34552580
Variant Present in the following documents:
  • DataSheet_4.xlsx, sheet 2
View BVdb publication page



Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: CALR: 701_702del; E234fs
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page



Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: CALR: 701_702del; E234fs
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page