ATP8B4 c.1308C>A ;(p.F436L)

Variant ID: 15-50226359-G-T

NM_024837.3(ATP8B4):c.1308C>A;(p.F436L)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: ATP8B4: Phe436Leu
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants in Forkhead box O1 associated with predisposition to sepsis in a Chinese Han population.

Bmc Infectious Diseases
Wang, Huijuan H; Tong, Zhaohui Z; Li, Jia J; Xiao, Kun K; Ren, Feifei F; Xie, Lixin L
Publication Date: 2019-09-06

Variant appearance in text: rs55687265
PubMed Link: 31492105
Variant Present in the following documents:
  • Main text
  • 12879_2019_Article_4330.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: N/A
PubMed Link: 30894629
Variant Present in the following documents:
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: N/A
PubMed Link: 30030262
Variant Present in the following documents:
View BVdb publication page



Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.

Arthritis & Rheumatology (Hoboken, N.J.)
Gourh, Pravitt P; Remmers, Elaine F EF; Boyden, Steven E SE; Alexander, Theresa T; Morgan, Nadia D ND; Shah, Ami A AA; Mayes, Maureen D MD; Doumatey, Ayo A; Bentley, Amy R AR; Shriner, Daniel D; Domsic, Robyn T RT; Medsger, Thomas A TA; Steen, Virginia D VD; Ramos, Paula S PS; Silver, Richard M RM; Korman, Benjamin B; Varga, John J; Schiopu, Elena E; Khanna, Dinesh D; Hsu, Vivien V; Gordon, Jessica K JK; Saketkoo, Lesley Ann LA; Gladue, Heather H; Kron, Brynn B; Criswell, Lindsey A LA; Derk, Chris T CT; Bridges, S Louis SL; Shanmugam, Victoria K VK; Kolstad, Kathleen D KD; Chung, Lorinda L; Jan, Reem R; Bernstein, Elana J EJ; Goldberg, Avram A; Trojanowski, Marcin M; Kafaja, Suzanne S; Maksimowicz-McKinnon, Kathleen M KM; Mullikin, James C JC; Adeyemo, Adebowale A; Rotimi, Charles C; Boin, Francesco F; Kastner, Daniel L DL; Wigley, Fredrick M FM
Publication Date: 2018-10

Variant appearance in text: rs55687265
PubMed Link: 29732714
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unfolding the pathogenesis of scleroderma through genomics and epigenomics.

Journal Of Autoimmunity
Tsou, Pei-Suen PS; Sawalha, Amr H AH
Publication Date: 2017-09

Variant appearance in text: rs55687265
PubMed Link: 28526340
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: N/A
PubMed Link: 28440294
Variant Present in the following documents:
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: N/A
PubMed Link: 27512948
Variant Present in the following documents:
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: ATP8B4: F436L; rs55687265
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
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: N/A
PubMed Link: 25032700
Variant Present in the following documents:
View BVdb publication page