Variant ID: 1-55523154-AG-GC

NM_174936.3(PCSK9):c.1147_1148delinsGC;(p.Ser383Ala)

This variant was identified in 1 publication




Publications:


Ndm, a coiled-coil domain protein that suppresses macropinocytosis and has effects on cell migration.

Molecular Biology Of The Cell
JS Kelsey, NM Fastman, EF Noratel, DD Blumberg
Publication Date: 2012-09

Variant appearance in text: FH3: S383A
PMID: 22809629
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1147_1148delinsGC p.Ser383Ala missense_variant 7/12 -
ENST00000490692.1 n.1871_1872delinsGC - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.547_548delinsGC p.Ser183Ala missense_variant 5/10 -
NM_174936.4 c.1147_1148delinsGC p.Ser383Ala missense_variant 7/12 -
NR_110451.1 n.806_807delinsGC - non_coding_transcript_exon_variant 5/10 -