LDLR c.1786A>G ;(p.K596E)

Variant ID: 19-11227615-A-G

NM_000527.4(LDLR):c.1786A>G;(p.K596E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26

Variant appearance in text: LDLR: K596E
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
  • srep17272.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: LDLR: K596E
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 3
View BVdb publication page