PMID: 32730773

Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica et biophysica acta. General subjects
Z D'Souza, FS Taher, VV Lupashin
2020-11

31 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-40239251-C-T COG6 c.388C>T p.Gln130* Nonsense 4/19 -
13-40229864-A-G COG6 c.1A>G p.Met1Val Missense 1/19 -
16-69373288-C-CC COG8 c.171_171dupG p.Leu58Alafs*29 Frameshift 1/6 -
7-106938784-AC-A COG5 c.1209delG p.Met403Ilefs*3 Frameshift 12/21 -
13-40273710-A-AA COG6 c.1239dupA p.Phe414Ilefs*4 Frameshift 13/19 -
13-40297531-G-T COG6 c.1646G>T p.Gly549Val Missense 16/19 -
7-106924080-G-GG COG5 c.1508_1508dup p.Gly505Trpfs*3 Frameshift 13/21 -
7-106851608-G-A COG5 c.2324C>T p.Pro775Leu Missense 20/21 -
7-106938703-G-T COG5 c.1290C>A p.Tyr430* Nonsense 12/21 -
16-69364999-C-T COG8 c.1583-1G>A - IntronicSNV - 4/5
16-70546183-C-A COG4 c.697G>T p.Glu233* Nonsense 5/18 -
16-69368598-A-AT COG8 c.1238_1239insA p.Ala414Cysfs*35 Frameshift 3/6 -
16-23444891-T-C COG7 c.785A>G p.His262Arg Missense 6/17 -
16-70530270-C-G COG4 c.1546G>C p.Gly516Arg Missense 12/18 -
13-40256398-A-G COG6 c.785A>G p.Tyr262Cys Missense 8/19 -
17-71193179-G-GG COG1 c.701_701dup p.Ala236Glyfs*87 Frameshift 3/14 -
1-230805208-A-AA COG2 c.701_701dup p.Tyr234*fs*1 Nonsense 7/18 -
13-40273614-A-G COG6 c.1167-24A>G - IntronicSNV - 12/18
7-107194786-AA-A COG5 c.330delT p.Val111Leufs*23 Frameshift 3/21 -
16-69364925-G-GG COG8 c.1656_1656dupC p.Ala553Argfs*15 Frameshift 5/6 -
7-106877002-T-G COG5 c.2077A>C p.Thr693Pro Missense 18/21 -
16-70530270-C-T COG4 c.1546G>A p.Gly516Arg Missense 12/18 -
7-106897239-C-A COG5 c.1780G>T p.Val594Phe Missense 16/21 -
16-23457289-T-C COG7 c.170-7A>G - IntronicSNV - 1/16
13-40251687-C-T COG6 c.511C>T p.Arg171* Nonsense 5/19 -
1-230825865-T-G COG2 c.1900T>G p.Trp634Gly Missense 16/18 -
7-106888931-A-G COG5 c.1856T>C p.Leu619Pro Missense 17/21 -
7-107204340-A-C COG5 c.95T>G p.Met32Arg Missense 1/21 -
16-69364970-G-C COG8 c.1611C>G p.Tyr537* Nonsense 5/6 -
13-46085961-G-T COG3 c.1781G>T p.Gly594Val Missense 16/23 -
17-71199868-T-G COG1 c.2318T>G p.Leu773Arg Missense 9/14 -