SMN1 c.122A>G ;(p.K41R)

Variant ID: 5-70234706-A-G

NM_000344.3(SMN1):c.122A>G;(p.K41R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system.

Jci Insight
Kim, Ji-Hoon JH; Kang, Jong-Seol JS; Yoo, Kyusang K; Jeong, Jinguk J; Park, Inkuk I; Park, Jong Ho JH; Rhee, Joonwoo J; Jeon, Shin S; Jo, Young-Woo YW; Hann, Sang-Hyeon SH; Seo, Minji M; Moon, Seungtae S; Um, Soo-Jong SJ; Seong, Rho Hyun RH; Kong, Young-Yun YY
Publication Date: 2022-05-23

Variant appearance in text: SMA: K41R
PubMed Link: 35603786
Variant Present in the following documents:
  • jciinsight-7-158380.pdf
View BVdb publication page



Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway.

International Journal Of Molecular Sciences
Sánchez-Lanzas, Raúl R; Castaño, José G JG
Publication Date: 2017-12-08

Variant appearance in text: SMN1: K41R
PubMed Link: 29292768
Variant Present in the following documents:
  • Main text
  • ijms-18-02667.pdf
View BVdb publication page