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TTN c.262C>G ;(p.Q88E)
Variant ID: 2-179666898-G-C
NM_001267550.1(
TTN
):c.262C>G;(p.Q88E)
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:
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19
Variant appearance in text: TTN: Q88E
PubMed Link:
34673281
Variant Present in the following documents:
mmc2.xlsx, sheet 11
View BVdb publication page
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021
Variant appearance in text: TTN: Q88E
PubMed Link:
34673281
Variant Present in the following documents:
mmc2.xlsx, sheet 11
View BVdb publication page
Cryo-EM structures and functional characterization of murine Slc26a9 reveal mechanism of uncoupled chloride transport.
Elife
Walter, Justin D JD; Sawicka, Marta M; Dutzler, Raimund R
Publication Date: 2019-07-24
Variant appearance in text: TMD: Q88E
PubMed Link:
31339488
Variant Present in the following documents:
Main text
elife-46986.pdf
View BVdb publication page
Glutamine residues in Q-loops of multidrug resistance protein MRP1 contribute to ATP binding via interaction with metal cofactor.
Biochimica Et Biophysica Acta
Yang, Runying R; Hou, Yue-xian YX; Campbell, Chase A CA; Palaniyandi, Kanagaraj K; Zhao, Qing Q; Bordner, Andrew J AJ; Chang, Xiu-bao XB
Publication Date: 2011-07
Variant appearance in text: TMD: Q88E
PubMed Link:
21315686
Variant Present in the following documents:
Main text
View BVdb publication page