ABCA4 c.546C>G ;(p.I182M)

Variant ID: 1-94568595-G-C

NM_000350.2(ABCA4):c.546C>G;(p.I182M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.

Genome Medicine
Creaney, Jenette J; Patch, Ann-Marie AM; Addala, Venkateswar V; Sneddon, Sophie A SA; Nones, Katia K; Dick, Ian M IM; Lee, Y C Gary YCG; Newell, Felicity F; Rouse, Ebony J EJ; Naeini, Marjan M MM; Kondrashova, Olga O; Lakis, Vanessa V; Nakas, Apostolos A; Waller, David D; Sharkey, Annabel A; Mukhopadhyay, Pamela P; Kazakoff, Stephen H SH; Koufariotis, Lambros T LT; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Holmes, Oliver O; Xu, Qinying Q; Leonard, Conrad C; Wood, Scott S; Grimmond, Sean M SM; Bueno, Raphael R; Fennell, Dean A DA; Pearson, John V JV; Robinson, Bruce W BW; Waddell, Nicola N
Publication Date: 2022-05-30

Variant appearance in text: ABCA4: 546C>G; Ile182Met
PubMed Link: 35637530
Variant Present in the following documents:
  • 13073_2022_1060_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ABCA4: I182M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: ABCA4: I182M
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page