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HP c.359A>C ;(p.E120A)
Variant ID: 16-72092246-A-C
NM_005143.3(
HP
):c.359A>C;(p.E120A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Computational Modeling of Virally-encoded Ion Channel Structure.
Research Square
Weissman, Alexander A; Bennett, Jeremy J; Smith, Nicole N; Burdorf, Carly C; Johnston, Emma E; Malachowsky, Beth B; Banks, Lori L
Publication Date: 2022-10-19
Variant appearance in text: HP: E120A
PubMed Link:
36299429
Variant Present in the following documents:
nihpp-rs2182743v1.pdf
View BVdb publication page
Structure and ion-release mechanism of PIB-4-type ATPases.
Elife
Grønberg, Christina C; Hu, Qiaoxia Q; Mahato, Dhani Ram DR; Longhin, Elena E; Salustros, Nina N; Duelli, Annette A; Lyu, Pin P; Bågenholm, Viktoria V; Eriksson, Jonas J; Rao, Komal Umashankar KU; Henderson, Domhnall Iain DI; Meloni, Gabriele G; Andersson, Magnus M; Croll, Tristan T; Godaly, Gabriela G; Wang, Kaituo K; Gourdon, Pontus P
Publication Date: 2021-12-24
Variant appearance in text: HP: E120A
PubMed Link:
34951590
Variant Present in the following documents:
Main text
elife-73124.pdf
View BVdb publication page
A theoretical study on predicted protein targets of apple polyphenols and possible mechanisms of chemoprevention in colorectal cancer.
Scientific Reports
Scafuri, Bernardina B; Marabotti, Anna A; Carbone, Virginia V; Minasi, Paola P; Dotolo, Serena S; Facchiano, Angelo A
Publication Date: 2016-09-02
Variant appearance in text: HP: E120A
PubMed Link:
27587238
Variant Present in the following documents:
Main text
srep32516.pdf
View BVdb publication page
Insight into Structure-Function Relationships and Inhibition of the Fatty Acyl-AMP Ligase (FadD32) Orthologs from Mycobacteria.
The Journal Of Biological Chemistry
Guillet, Valérie V; Galandrin, Ségolène S; Maveyraud, Laurent L; Ladevèze, Simon S; Mariaule, Vincent V; Bon, Cécile C; Eynard, Nathalie N; Daffé, Mamadou M; Marrakchi, Hedia H; Mourey, Lionel L
Publication Date: 2016-04-08
Variant appearance in text: HP: E120A
PubMed Link:
26900152
Variant Present in the following documents:
Main text
View BVdb publication page