SMN1 c.844_845delinsGC ;(p.Q282A)

Variant ID: 5-70247777-CA-GC

NM_000344.3(SMN1):c.844_845delinsGC;(p.Q282A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: SMN1: Q282A
PubMed Link: 34360669
Variant Present in the following documents:
  • Main text
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Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.

Human Molecular Genetics
McGovern, Vicki L VL; Kray, Kaitlyn M KM; Arnold, W David WD; Duque, Sandra I SI; Iyer, Chitra C CC; Massoni-Laporte, Aurélie A; Workman, Eileen E; Patel, Aalapi A; Battle, Daniel J DJ; Burghes, Arthur H M AHM
Publication Date: 2020-11-01

Variant appearance in text: SMA: Q282A
PubMed Link: 33084884
Variant Present in the following documents:
  • Main text
View BVdb publication page



HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Hao le, Thi T; Duy, Phan Q PQ; An, Min M; Talbot, Jared J; Iyer, Chitra C CC; Wolman, Marc M; Beattie, Christine E CE
Publication Date: 2017-11-29

Variant appearance in text: SMA: Q282A
PubMed Link: 29061699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

Brain Research
Fallini, Claudia C; Bassell, Gary J GJ; Rossoll, Wilfried W
Publication Date: 2012-06-26

Variant appearance in text: SMA: Q282A
PubMed Link: 22330725
Variant Present in the following documents:
  • Main text
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Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.

Results And Problems In Cell Differentiation
Rossoll, Wilfried W; Bassell, Gary J GJ
Publication Date: 2009

Variant appearance in text: SMA: Q282A
PubMed Link: 19343312
Variant Present in the following documents:
  • Main text
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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Human Molecular Genetics
Workman, Eileen E; Saieva, Luciano L; Carrel, Tessa L TL; Crawford, Thomas O TO; Liu, Don D; Lutz, Cathleen C; Beattie, Christine E CE; Pellizzoni, Livio L; Burghes, Arthur H M AH
Publication Date: 2009-06-15

Variant appearance in text: SMA: Q282A
PubMed Link: 19329542
Variant Present in the following documents:
  • Main text
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Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Carrel, Tessa L TL; McWhorter, Michelle L ML; Workman, Eileen E; Zhang, Honglai H; Wolstencroft, Elizabeth C EC; Lorson, Christian C; Bassell, Gary J GJ; Burghes, Arthur H M AH; Beattie, Christine E CE
Publication Date: 2006-10-25

Variant appearance in text: SMA: Q282A
PubMed Link: 17065443
Variant Present in the following documents:
  • Main text
View BVdb publication page