SI c.88G>C ;(p.V30L)

Variant ID: 3-164793713-C-G

NM_001041.3(SI):c.88G>C;(p.V30L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Pilot Investigation of SARS-CoV-2 Variants in the Island of Sicily Prior to and in the Second Wave of the COVID-19 Pandemic.

Frontiers In Microbiology
Padilla-Blanco, Miguel M; Gucciardi, Francesca F; Guercio, Annalisa A; Rubio, Vicente V; Princiotta, Antonina A; Veses, Veronica V; Terrana, Mariangela M; Sheth, Chirag C CC; Pascual-Ortiz, Marina M; Maiques, Elisa E; Purpari, Giuseppa G; Rubio-Guerri, Consuelo C
Publication Date: 2022

Variant appearance in text: SI: V30L
PubMed Link: 35558104
Variant Present in the following documents:
  • Main text
  • fmicb-13-869559.pdf
View BVdb publication page



Evolutionary and Phenotypic Characterization of Two Spike Mutations in European Lineage 20E of SARS-CoV-2.

Mbio
Ruiz-Rodriguez, Paula P; Francés-Gómez, Clara C; Chiner-Oms, Álvaro Á; López, Mariana G MG; Jiménez-Serrano, Santiago S; Cancino-Muñoz, Irving I; Ruiz-Hueso, Paula P; Torres-Puente, Manuela M; Bracho, Maria Alma MA; D'Auria, Giuseppe G; Martinez-Priego, Llúcia L; Guerreiro, Manuel M; Montero-Alonso, Marta M; Gómez, María Dolores MD; Piñana, José Luis JL; , ; González-Candelas, Fernando F; Comas, Iñaki I; Marina, Alberto A; Geller, Ron R; Coscolla, Mireia M
Publication Date: 2021-12-21

Variant appearance in text: SI: V30L
PubMed Link: 34781748
Variant Present in the following documents:
  • mbio.02315-21.pdf
View BVdb publication page



The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: SI: V30L
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc10.xlsx, sheet 1
View BVdb publication page



Emergence and spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Medrxiv : The Preprint Server For Health Sciences
Hodcroft, Emma B EB; Zuber, Moira M; Nadeau, Sarah S; Vaughan, Timothy G TG; Crawford, Katharine H D KHD; Althaus, Christian L CL; Reichmuth, Martina L ML; Bowen, John E JE; Walls, Alexandra C AC; Corti, Davide D; Bloom, Jesse D JD; Veesler, David D; Mateo, David D; Hernando, Alberto A; Comas, Iñaki I; González Candelas, Fernando F; , ; Stadler, Tanja T; Neher, Richard A RA
Publication Date: 2021-03-24

Variant appearance in text: SI: V30L
PubMed Link: 33269368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Orphanet Journal Of Rare Diseases
Sekijima, Yoshiki Y; Ueda, Mitsuharu M; Koike, Haruki H; Misawa, Sonoko S; Ishii, Tomonori T; Ando, Yukio Y
Publication Date: 2018-01-17

Variant appearance in text: SI: Val30Leu
PubMed Link: 29343286
Variant Present in the following documents:
  • 13023_2017_Article_726.pdf
View BVdb publication page



Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Bmc Genomics
Iorio, Andrea A; De Angelis, Flavio F; Di Girolamo, Marco M; Luigetti, Marco M; Pradotto, Luca G LG; Mazzeo, Anna A; Frusconi, Sabrina S; My, Filomena F; Manfellotto, Dario D; Fuciarelli, Maria M; Polimanti, Renato R
Publication Date: 2017-03-23

Variant appearance in text: SI: Val30Leu
PubMed Link: 28335735
Variant Present in the following documents:
  • 12864_2017_3646_MOESM1_ESM.pdf
View BVdb publication page



The pathological and biochemical identification of possible seed-lesions of transmitted transthyretin amyloidosis after domino liver transplantation.

The Journal Of Pathology. Clinical Research
Yoshinaga, Tsuneaki T; Yazaki, Masahide M; Sekijima, Yoshiki Y; Kametani, Fuyuki F; Miyashita, Kana K; Hachiya, Naomi N; Tanaka, Tomohiro T; Kokudo, Norihiro N; Higuchi, Keiichi K; Ikeda, Shu-Ichi S
Publication Date: 2016-04

Variant appearance in text: SI: Val30Leu
PubMed Link: 27499917
Variant Present in the following documents:
  • Main text
  • CJP2-2-072.pdf
View BVdb publication page