SMN1 c.131A>C ;(p.D44A)

Variant ID: 5-70234715-A-C

NM_000344.3(SMN1):c.131A>C;(p.D44A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Solution structure of the core SMN-Gemin2 complex.

The Biochemical Journal
Sarachan, Kathryn L KL; Valentine, Kathleen G KG; Gupta, Kushol K; Moorman, Veronica R VR; Gledhill, John M JM; Bernens, Matthew M; Tommos, Cecilia C; Wand, A Joshua AJ; Van Duyne, Gregory D GD
Publication Date: 2012-08-01

Variant appearance in text: SMA: D44A
PubMed Link: 22607171
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly.

Cell
Zhang, Rundong R; So, Byung Ran BR; Li, Pilong P; Yong, Jeongsik J; Glisovic, Tina T; Wan, Lili L; Dreyfuss, Gideon G
Publication Date: 2011-08-05

Variant appearance in text: SMA: D44A
PubMed Link: 21816274
Variant Present in the following documents:
  • Main text
View BVdb publication page