SMN1 c.755A>C ;(p.D252A)

Variant ID: 5-70241924-A-C

NM_000344.3(SMN1):c.755A>C;(p.D252A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.

Plos One
Fuentes, Jennifer L JL; Strayer, Molly S MS; Matera, A Gregory AG
Publication Date: 2010-12-30

Variant appearance in text: SMA: D252A
PubMed Link: 21209906
Variant Present in the following documents:
  • Main text
  • pone.0015769.pdf
View BVdb publication page



Survival motor neuron protein modulates neuron-specific apoptosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kerr, D A DA; Nery, J P JP; Traystman, R J RJ; Chau, B N BN; Hardwick, J M JM
Publication Date: 2000-11-21

Variant appearance in text: SMA: D252A
PubMed Link: 11078511
Variant Present in the following documents:
  • Main text
View BVdb publication page