NPC1 c.389T>C ;(p.V130A)

Variant ID: 18-21148861-A-G

NM_000271.4(NPC1):c.389T>C;(p.V130A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic insights into the evolution of Echinochloa species as weed and orphan crop.

Nature Communications
Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY
Publication Date: 2022-02-03

Variant appearance in text: NPC1: Val130Ala
PubMed Link: 35115514
Variant Present in the following documents:
  • 41467_2022_28359_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Genomic insights into the evolution of Echinochloa species as weed and orphan crop.

Nature Communications
Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY
Publication Date: 2022-02-03

Variant appearance in text: NPC1: Val130Ala
PubMed Link: 35115514
Variant Present in the following documents:
  • 41467_2022_28359_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Human Mutation
Rodríguez-Pascau, Laura L; Gort, Laura L; Schuchman, Edward H EH; Vilageliu, Lluïsa L; Grinberg, Daniel D; Chabás, Amparo A
Publication Date: 2009-07

Variant appearance in text: NPC1: 389T>C; V130A
PubMed Link: 19405096
Variant Present in the following documents:
  • Main text
View BVdb publication page