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CALHM1 c.*1254C>T
Variant ID: 10-105213765-G-A
NM_001001412.3(
CALHM1
):c.*1254C>T
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs11191692
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
International Journal Of Molecular Sciences
Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R
Publication Date: 2020-10-21
Variant appearance in text: rs11191692
PubMed Link:
33096746
Variant Present in the following documents:
Main text
ijms-21-07784.pdf
View BVdb publication page
A systematic approach for identifying shared mechanisms in epilepsy and its comorbidities.
Database : The Journal Of Biological Databases And Curation
Hoyt, Charles Tapley CT; Domingo-Fernández, Daniel D; Balzer, Nora N; Güldenpfennig, Anka A; Hofmann-Apitius, Martin M
Publication Date: 2018-01-01
Variant appearance in text: rs11191692
PubMed Link:
29873705
Variant Present in the following documents:
Main text
bay050.pdf
View BVdb publication page
Genetic and epigenetic mechanisms of epilepsy: a review.
Neuropsychiatric Disease And Treatment
Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y
Publication Date: 2017
Variant appearance in text: rs11191692
PubMed Link:
28761347
Variant Present in the following documents:
Main text
ndt-13-1841.pdf
View BVdb publication page
A Bayesian group sparse multi-task regression model for imaging genetics.
Bioinformatics (Oxford, England)
Greenlaw, Keelin K; Szefer, Elena E; Graham, Jinko J; Lesperance, Mary M; Nathoo, Farouk S FS; ,
Publication Date: 2017-08-15
Variant appearance in text: rs11191692
PubMed Link:
28419235
Variant Present in the following documents:
Main text
View BVdb publication page
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: rs11191692
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Genetics of temporal lobe epilepsy: a review.
Epilepsy Research And Treatment
Salzmann, Annick A; Malafosse, Alain A
Publication Date: 2012
Variant appearance in text: rs11191692
PubMed Link:
22957248
Variant Present in the following documents:
Main text
ERT2012-863702.pdf
View BVdb publication page