Bibliome.ai browser hg19
Search
About
Stats
FAQ
TTN c.33922C>T ;(p.P11308S)
Variant ID: 2-179542924-G-A
NM_001267550.1(
TTN
):c.33922C>T;(p.P11308S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04
Variant appearance in text: TTN: P11308S
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: TTN: P11308S
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page