APP c.950C>T ;(p.A317V)

Variant ID: 21-27372413-G-A

NM_000484.3(APP):c.950C>T;(p.A317V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: APP: 950C>T; Ala317Val
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Journal Of Medical Genetics
Davids, Mariska M; Kane, Megan S MS; He, Miao M; Wolfe, Lynne A LA; Li, Xueli X; Raihan, Mohd A MA; Chao, Katherine R KR; Bone, William P WP; Boerkoel, Cornelius F CF; Gahl, William A WA; Toro, Camilo C
Publication Date: 2016-03

Variant appearance in text: APP: 950C>T
PubMed Link: 26668131
Variant Present in the following documents:
  • Main text
View BVdb publication page