LDLR c.38_39delinsAG ;(p.A13E)

Variant ID: 19-11200262-CC-AG

NM_000527.4(LDLR):c.38_39delinsAG;(p.A13E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Discovery of driver non-coding splice-site-creating mutations in cancer.

Nature Communications
Cao, Song S; Zhou, Daniel Cui DC; Oh, Clara C; Jayasinghe, Reyka G RG; Zhao, Yanyan Y; Yoon, Christopher J CJ; Wyczalkowski, Matthew A MA; Bailey, Matthew H MH; Tsou, Terrence T; Gao, Qingsong Q; Malone, Andrew A; Reynolds, Sheila S; Shmulevich, Ilya I; Wendl, Michael C MC; Chen, Feng F; Ding, Li L
Publication Date: 2020-11-04

Variant appearance in text: LDLR: A13E
PubMed Link: 33149122
Variant Present in the following documents:
  • 41467_2020_19307_MOESM7_ESM.xlsx, sheet 11
View BVdb publication page



Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports
Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM
Publication Date: 2018-03-12

Variant appearance in text: LDLR: A13E
PubMed Link: 29531238
Variant Present in the following documents:
  • 41598_2018_22345_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page