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NPC1 c.2354T>C ;(p.L785S)
Variant ID: 18-21121289-A-G
NM_000271.4(
NPC1
):c.2354T>C;(p.L785S)
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:
Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.
Science Advances
Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J
Publication Date: 2020-02
Variant appearance in text: NPC1: L785S
PubMed Link:
32133402
Variant Present in the following documents:
aay4211_Table_S2.xlsx, sheet 1
View BVdb publication page
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
Genome Research
Erwood, Steven S; Brewer, Reid A RA; Bily, Teija M I TMI; Maino, Eleonora E; Zhou, Liangchi L; Cohn, Ronald D RD; Ivakine, Evgueni A EA
Publication Date: 2019-12
Variant appearance in text: NPC1: L785S
PubMed Link:
31754021
Variant Present in the following documents:
Main text
supp_gr.250720.119_SupplementalTables.xlsx, sheet 2
2010.pdf
View BVdb publication page