Variant ID: 1-230805208-A-AA


This variant was identified in 3 publications


Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica Et Biophysica Acta. General Subjects
Z D'Souza, FS Taher, VV Lupashin
Publication Date: 2020-11

Variant appearance in text: COG2: 701dup; Y234*
PubMed Link: 32730773
Variant Present in the following documents:
  • Main text
View BVdb publication page

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International Journal Of Molecular Sciences
PTA Linders, E Peters, M Ter Beest, DJ Lefeber, G van den Bogaart
Publication Date: 2020-06-30

Variant appearance in text: N/A
PubMed Link: 32629928
Variant Present in the following documents:
View BVdb publication page

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: COG2: 701dup
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.701dup p.Tyr234* stop_gained,frameshift_variant 7/18 -
ENST00000366669.4 c.701dup p.Tyr234* stop_gained,frameshift_variant 7/18 -
ENST00000468893.2 c.*559dup - 3_prime_UTR_variant,NMD_transcript_variant 8/19 -
ENST00000494371.1 n.1015dup - non_coding_transcript_exon_variant 8/10 -
ENST00000534989.1 c.524dup p.Tyr175* stop_gained,frameshift_variant 7/18 -
ENST00000535166.1 c.353dup p.Tyr118* stop_gained,frameshift_variant 8/19 -
NM_001145036.2 c.701dup p.Tyr234* stop_gained,frameshift_variant 7/18 -
NM_007357.3 c.701dup p.Tyr234* stop_gained,frameshift_variant 7/18 -