HP c.692T>C ;(p.V231A)

Variant ID: 16-72094260-T-C

NM_005143.3(HP):c.692T>C;(p.V231A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Profiling of hMPV F-specific antibodies isolated from human memory B cells.

Nature Communications
Xiao, Xiao X; Fridman, Arthur A; Zhang, Lu L; Pristatsky, Pavlo P; Durr, Eberhard E; Minnier, Michael M; Tang, Aimin A; Cox, Kara S KS; Wen, Zhiyun Z; Moore, Renee R; Tian, Dongrui D; Galli, Jennifer D JD; Cosmi, Scott S; Eddins, Michael J MJ; Sullivan, Nicole L NL; Yan, Xiaodong X; Bett, Andrew J AJ; Su, Hua-Poo HP; Vora, Kalpit A KA; Chen, Zhifeng Z; Zhang, Lan L
Publication Date: 2022-05-10

Variant appearance in text: HP: V231A
PubMed Link: 35538099
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_30205.pdf
View BVdb publication page



Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: HP: 692T>C; V231A
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



CLC anion channel regulatory phosphorylation and conserved signal transduction domains.

Biophysical Journal
Miyazaki, Hiroaki H; Yamada, Toshiki T; Parton, Angela A; Morrison, Rebecca R; Kim, Sunghoon S; Beth, Albert H AH; Strange, Kevin K
Publication Date: 2012-10-17

Variant appearance in text: HP: V231A
PubMed Link: 23083714
Variant Present in the following documents:
  • Main text
View BVdb publication page