Details for Gene LMNA

GENE NAME LMNA
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000160789
UNIPROT ACCESSION NUMBER P02545
GO MOLECULAR FUNCTION ['protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04210; hsa05410; hsa05412; hsa05414; R-HSA-1643685; R-HSA-381038; R-HSA-381070; R-HSA-381119; R-HSA-392499; R-HSA-5663202; R-HSA-6802952; R-HSA-6802957
4 combinations linked to LMNA OLI077; OLI189; OLI1797; OLI190
4 variants linked to LMNA LMNA:c.892C>T, p.Arg298Cys; LMNA:c.976T>A, p.Ser326Thr; LMNA:c.1930C>T, p.Arg644Cys; LMNA:c.647G>A, p.Arg216His
2 diseases linked to LMNA Dilated cardiomyopathy; Emery-Dreifuss muscular dystrophy

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