Variant ID: 1-230823832-G-A

NM_007357.2(COG2):c.1594G>A;(p.Glu532Lys)

This variant was identified in 1 publication




Publications:


Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.

Febs Letters
JB Blackburn, Z D'Souza, VV Lupashin
Publication Date: 2019-09

Variant appearance in text: LDLC: E532K
PubMed Link: 31381138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1594G>A p.Glu532Lys missense_variant 14/18 -
ENST00000366669.4 c.1594G>A p.Glu532Lys missense_variant 14/18 -
ENST00000468893.2 c.*1452G>A - 3_prime_UTR_variant,NMD_transcript_variant 15/19 -
ENST00000482012.1 n.484G>A - non_coding_transcript_exon_variant 4/5 -
ENST00000490900.1 n.97G>A - non_coding_transcript_exon_variant 1/2 -
ENST00000534989.1 c.1417G>A p.Glu473Lys missense_variant 14/18 -
ENST00000535166.1 c.1246G>A p.Glu416Lys missense_variant 15/19 -
ENST00000546013.1 c.661G>A p.Glu221Lys missense_variant 6/10 -
NM_001145036.2 c.1594G>A p.Glu532Lys missense_variant 14/18 -
NM_007357.3 c.1594G>A p.Glu532Lys missense_variant 14/18 -