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SMN1 c.819dup ;(p.T274Yfs*32)
Variant ID: 5-70241987-A-AT
NM_000344.3(
SMN1
):c.819dup;(p.T274Yfs*32)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Genes
Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M
Publication Date: 2022-01-24
Variant appearance in text: SMN1: T274YfsX32
PubMed Link:
35205250
Variant Present in the following documents:
Main text
genes-13-00205.pdf
View BVdb publication page
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
International Journal Of Molecular Sciences
Butchbach, Matthew E R MER
Publication Date: 2021-07-23
Variant appearance in text: SMA: 819_820insT
PubMed Link:
34360669
Variant Present in the following documents:
Main text
ijms-22-07896.pdf
View BVdb publication page
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04
Variant appearance in text: SMN1: Thr274TyrfsX32
PubMed Link:
33148303
Variant Present in the following documents:
Main text
13052_2020_Article_925.pdf
View BVdb publication page