ABCA7 c.1388G>A ;(p.R463H)

Variant ID: 19-1045173-G-A

NM_019112.3(ABCA7):c.1388G>A;(p.R463H)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ABCA7: R463H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2022-11-01

Variant appearance in text: ABCA7: Arg463His
PubMed Link: 36362122
Variant Present in the following documents:
  • Main text
  • ijms-23-13331.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ABCA7: R463H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

Frontiers In Psychiatry
Viggiano, Marta M; D'Andrea, Tiziano T; Cameli, Cinzia C; Posar, Annio A; Visconti, Paola P; Scaduto, Maria Cristina MC; Colucci, Roberta R; Rochat, Magali J MJ; Ceroni, Fabiola F; Milazzo, Giorgio G; Fucile, Sergio S; Maestrini, Elena E; Bacchelli, Elena E
Publication Date: 2022

Variant appearance in text: rs3752233
PubMed Link: 35350424
Variant Present in the following documents:
  • Data-Sheet_1.pdf
View BVdb publication page



Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad
Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J
Publication Date: 2022

Variant appearance in text: ABCA7: 1388G>A; R463H; rs3752233
PubMed Link: 34958020
Variant Present in the following documents:
  • jad-85-jad215067-s001.pdf
View BVdb publication page



Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics
Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J
Publication Date: 2021-05-28

Variant appearance in text: ABCA7: 1388G>A; R463H; rs3752233
PubMed Link: 33835157
Variant Present in the following documents:
  • supplementary_tables_ddab090.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Publication Date: 2020-06-14

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 32545847
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00405.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: ABCA7: 1388G>A; R463H; rs3752233
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S
Publication Date: 2020-03-01

Variant appearance in text: ABCA7: 1388G>A; R463H; rs3752233
PubMed Link: 32121568
Variant Present in the following documents:
  • diagnostics-10-00135-s001.pdf
View BVdb publication page



Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10

Variant appearance in text: ABCA7: 1388G>A; Arg463His; rs3752233
PubMed Link: 31182772
Variant Present in the following documents:
  • 41598_2019_44848_MOESM1_ESM.pdf
View BVdb publication page



Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-03-26

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 30917570
Variant Present in the following documents:
  • ijms-20-01514-s001.pdf
View BVdb publication page



Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 30030262
Variant Present in the following documents:
  • annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page



ABCA7 loss-of-function variants, expression, and neurologic disease risk.

Neurology. Genetics
Allen, Mariet M; Lincoln, Sarah J SJ; Corda, Morgane M; Watzlawik, Jens O JO; Carrasquillo, Minerva M MM; Reddy, Joseph S JS; Burgess, Jeremy D JD; Nguyen, Thuy T; Malphrus, Kimberly K; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Publication Date: 2017-02

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 28097223
Variant Present in the following documents:
  • Main text
  • NG2016003343.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3752233
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA7: R463H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: ABCA7: R463H; rs3752233
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs3752233
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Annals Of Human Genetics
Holton, Patrick P; Ryten, Mina M; Nalls, Michael M; Trabzuni, Daniah D; Weale, Michael E ME; Hernandez, Dena D; Crehan, Helen H; Gibbs, J Raphael JR; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; , ; Ramirez-Restrepo, Manuel M; Engel, Anzhelika A; Myers, Amanda J AJ; Corneveaux, Jason J JJ; Huentelman, Matthew J MJ; Dillman, Allissa A; Cookson, Mark R MR; Reiman, Eric M EM; Singleton, Andrew A; Hardy, John J; Guerreiro, Rita R
Publication Date: 2013-03

Variant appearance in text: ABCA7: Arg463His; rs3752233
PubMed Link: 23360175
Variant Present in the following documents:
  • Main text
View BVdb publication page