ABCA4 c.6172C>G ;(p.L2058V)

Variant ID: 1-94467524-G-C

NM_000350.2(ABCA4):c.6172C>G;(p.L2058V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: ABCA4: 6172C>G
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: ABCA4: L2058V
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 15
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: ABCA4: L2058V
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 15
View BVdb publication page