ABCA4 c.6312G>C ;(p.Q2104H)

Variant ID: 1-94466632-C-G

NM_000350.2(ABCA4):c.6312G>C;(p.Q2104H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: Q2104H
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: Q2104H
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



JAK2/PD-L1/PD-L2 (9p24.1) amplifications in renal cell carcinomas with sarcomatoid transformation: implications for clinical management.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Gupta, Sounak S; Cheville, John C JC; Jungbluth, Achim A AA; Zhang, Yanming Y; Zhang, Lei L; Chen, Ying-Bei YB; Tickoo, Satish K SK; Fine, Samson W SW; Gopalan, Anuradha A; Al-Ahmadie, Hikmat A HA; Sirintrapun, Sahussapont J SJ; Blum, Kyle A KA; Lohse, Christine M CM; Hakimi, A Ari AA; Thompson, R Houston RH; Leibovich, Bradley C BC; Berger, Michael F MF; Arcila, Maria E ME; Ross, Dara S DS; Ladanyi, Marc M; Antonescu, Cristina R CR; Reuter, Victor E VE
Publication Date: 2019-09

Variant appearance in text: ABCA4: Q2104H
PubMed Link: 30996253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ABCA4: Q2104H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page