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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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