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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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