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COL4A5 c.1411C>T ;(p.Q471*)
Variant ID: X-107834862-C-T
NM_033380.2(
COL4A5
):c.1411C>T;(p.Q471*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.
Genes
Nikolaou, Stavros S; Deltas, Constantinos C
Publication Date: 2022-10-18
Variant appearance in text: COL4A5: 1411C>T
PubMed Link:
36292778
Variant Present in the following documents:
genes-13-01893.pdf
View BVdb publication page
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Iscience
Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH
Publication Date: 2022-03-18
Variant appearance in text: COL4A5: Q471X
PubMed Link:
35243249
Variant Present in the following documents:
Main text
mmc1.pdf
main.pdf
View BVdb publication page
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
Nature Communications
Yamamura, Tomohiko T; Horinouchi, Tomoko T; Adachi, Tomomi T; Terakawa, Maki M; Takaoka, Yutaka Y; Omachi, Kohei K; Takasato, Minoru M; Takaishi, Kiyosumi K; Shoji, Takao T; Onishi, Yoshiyuki Y; Kanazawa, Yoshito Y; Koizumi, Makoto M; Tomono, Yasuko Y; Sugano, Aki A; Shono, Akemi A; Minamikawa, Shogo S; Nagano, China C; Sakakibara, Nana N; Ishiko, Shinya S; Aoto, Yuya Y; Kamura, Misato M; Harita, Yutaka Y; Miura, Kenichiro K; Kanda, Shoichiro S; Morisada, Naoya N; Rossanti, Rini R; Ye, Ming Juan MJ; Nozu, Yoshimi Y; Matsuo, Masafumi M; Kai, Hirofumi H; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2020-06-02
Variant appearance in text: COL4A5: 1411C>T; Q471X
PubMed Link:
32488001
Variant Present in the following documents:
41467_2020_Article_16605.pdf
41467_2020_16605_MOESM1_ESM.pdf
41467_2020_16605_MOESM2_ESM.pdf
View BVdb publication page