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HMGCR c.643_644delinsGC ;(p.C215A)
Variant ID: 5-74645953-TG-GC
NM_000859.2(
HMGCR
):c.643_644delinsGC;(p.C215A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Competitive oxidation and ubiquitylation on the evolutionarily conserved cysteine confer tissue-specific stabilization of Insig-2.
Nature Communications
Zhou, Zhang-Sen ZS; Li, Mei-Xin MX; Liu, Jie J; Jiao, Hengwu H; Xia, Jing-Ming JM; Shi, Xiong-Jie XJ; Zhao, Huabin H; Chu, Liping L; Liu, Jingrong J; Qi, Wei W; Luo, Jie J; Song, Bao-Liang BL
Publication Date: 2020-01-17
Variant appearance in text: HMGCR: C215A
PubMed Link:
31953408
Variant Present in the following documents:
Main text
41467_2019_Article_14231.pdf
View BVdb publication page