Variant ID: 19-11224224-AG-GC

NM_000527.4(LDLR):c.1372_1373delinsGC;(p.Arg458Ala)

This variant was identified in 1 publication




Publications:


Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: LDLR: R458A
PubMed Link: 21771976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1626_1627delinsGC p.Arg543Ala missense_variant 10/18 -
ENST00000455727.2 c.868_869delinsGC p.Arg290Ala missense_variant 8/16 -
ENST00000535915.1 c.1249_1250delinsGC p.Arg417Ala missense_variant 9/17 -
ENST00000545707.1 c.991_992delinsGC p.Arg331Ala missense_variant 9/16 -
ENST00000557933.1 c.1372_1373delinsGC p.Arg458Ala missense_variant 10/18 -
ENST00000558013.1 c.1372_1373delinsGC p.Arg458Ala missense_variant 10/18 -
ENST00000558518.1 c.1372_1373delinsGC p.Arg458Ala missense_variant 10/18 -
ENST00000559340.1 c.93_94delinsGC p.Arg32Ala missense_variant,NMD_transcript_variant 2/5 -
ENST00000560467.1 c.852_853delinsGC p.Arg285Ala missense_variant 6/6 -
NM_000527.5 c.1372_1373delinsGC p.Arg458Ala missense_variant 10/18 -
NM_001195798.2 c.1372_1373delinsGC p.Arg458Ala missense_variant 10/18 -
NM_001195799.2 c.1249_1250delinsGC p.Arg417Ala missense_variant 9/17 -
NM_001195800.2 c.868_869delinsGC p.Arg290Ala missense_variant 8/16 -
NM_001195803.2 c.991_992delinsGC p.Arg331Ala missense_variant 9/16 -