NPC1 c.1989C>G ;(p.I663M)

Variant ID: 18-21124449-G-C

NM_000271.4(NPC1):c.1989C>G;(p.I663M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A functional enrichment test for molecular convergent evolution finds a clear protein-coding signal in echolocating bats and whales.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Marcovitz, Amir A; Turakhia, Yatish Y; Chen, Heidi I HI; Gloudemans, Michael M; Braun, Benjamin A BA; Wang, Haoqing H; Bejerano, Gill G
Publication Date: 2019-10-15

Variant appearance in text: NPC1: I663M
PubMed Link: 31570615
Variant Present in the following documents:
  • Main text
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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: rs550696790
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page