Variant ID: 1-230824279-G-C

NM_007357.2(COG2):c.1765G>C;(p.Val589Leu)

This variant was identified in 1 publication




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
R Fragoza, J Das, SD Wierbowski, J Liang, TN Tran, S Liang, JF Beltran, CA Rivera-Erick, K Ye, TY Wang, L Yao, M Mort, PD Stenson, DN Cooper, X Wei, A Keinan, JC Schimenti, AG Clark, H Yu
Publication Date: 2019-09-12

Variant appearance in text: rs34109129
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1762G>C p.Val588Leu missense_variant 15/18 -
ENST00000366669.4 c.1765G>C p.Val589Leu missense_variant 15/18 -
ENST00000468893.2 c.*1623G>C - 3_prime_UTR_variant,NMD_transcript_variant 16/19 -
ENST00000490900.1 n.544G>C - non_coding_transcript_exon_variant 1/2 -
ENST00000534989.1 c.1588G>C p.Val530Leu missense_variant 15/18 -
ENST00000535166.1 c.1417G>C p.Val473Leu missense_variant 16/19 -
ENST00000546013.1 c.832G>C p.Val278Leu missense_variant 7/10 -
NM_001145036.2 c.1762G>C p.Val588Leu missense_variant 15/18 -
NM_007357.3 c.1765G>C p.Val589Leu missense_variant 15/18 -