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SMN1 c.281T>C ;(p.V94A)
Variant ID: 5-70238192-T-C
NM_000344.3(
SMN1
):c.281T>C;(p.V94A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Human NDR kinases are rapidly activated by MOB proteins through recruitment to the plasma membrane and phosphorylation.
Molecular And Cellular Biology
Hergovich, Alexander A; Bichsel, Samuel J SJ; Hemmings, Brian A BA
Publication Date: 2005-09
Variant appearance in text: SMA: V94A
PubMed Link:
16135814
Variant Present in the following documents:
Main text
View BVdb publication page