Variant ID: 8-133895188-A-G

NM_003235.4(TG):c.1019A>G;(p.Asp340Gly)

This variant was identified in 2 publications




Publications:


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: TG: 1019_1020delinsGC
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural elucidation of dextran degradation mechanism by streptococcus mutans dextranase belonging to glycoside hydrolase family 66.

The Journal Of Biological Chemistry
N Suzuki, YM Kim, Z Fujimoto, M Momma, M Okuyama, H Mori, K Funane, A Kimura
Publication Date: 2012-06-08

Variant appearance in text: TG: D340G
PubMed Link: 22337884
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000220616.4 c.1019A>G p.Asp340Gly missense_variant 8/48 -
ENST00000377869.1 c.1019A>G p.Asp340Gly missense_variant 8/47 -
ENST00000520769.1 n.372A>G - non_coding_transcript_exon_variant 3/3 -
NM_003235.5 c.1019A>G p.Asp340Gly missense_variant 8/48 -