A2M c.1229A>C ;(p.N410T)

Variant ID: 12-9256872-T-G

NM_000014.4(A2M):c.1229A>C;(p.N410T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ).

Frontiers In Neurology
Qiu, Guozhen G; Cao, Liming L; Chen, Yong-Jun YJ
Publication Date: 2022

Variant appearance in text: A2M: 1229A>C; N410T
PubMed Link: 36698894
Variant Present in the following documents:
  • Main text
  • fneur-13-1090900.pdf
View BVdb publication page



Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: A2M: N410T; rs766284551
PubMed Link: 35966080
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page