SLC16A8 c.214+1G>C

Variant ID: 22-38478666-C-G

NM_013356.2(SLC16A8):c.214+1G>C

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Transcriptomic Changes Predict Metabolic Alterations in LC3 Associated Phagocytosis in Aged Mice.

International Journal Of Molecular Sciences
Dhingra, Anuradha A; Tobias, John W JW; Philp, Nancy J NJ; Boesze-Battaglia, Kathleen K
Publication Date: 2023-04-04

Variant appearance in text: rs77968014
PubMed Link: 37047689
Variant Present in the following documents:
  • Main text
  • ijms-24-06716.pdf
View BVdb publication page



A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.

Cells
Klipfel, Laurence L; Cordonnier, Marie M; Thiébault, Léa L; Clérin, Emmanuelle E; Blond, Frédéric F; Millet-Puel, Géraldine G; Mohand-Saïd, Saddek S; Goureau, Olivier O; Sahel, José-Alain JA; Nandrot, Emeline F EF; Léveillard, Thierry T
Publication Date: 2021-01-18

Variant appearance in text: rs77968014
PubMed Link: 33477551
Variant Present in the following documents:
  • Main text
  • cells-10-00179.pdf
View BVdb publication page



Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G
Publication Date: 2021-07

Variant appearance in text: SLC16A8: 214+1G>C
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: SLC16A8: 214+1G>C
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: SLC16A8: 214+1G>C; rs77968014
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Nature Genetics
Fritsche, Lars G LG; Igl, Wilmar W; Bailey, Jessica N Cooke JN; Grassmann, Felix F; Sengupta, Sebanti S; Bragg-Gresham, Jennifer L JL; Burdon, Kathryn P KP; Hebbring, Scott J SJ; Wen, Cindy C; Gorski, Mathias M; Kim, Ivana K IK; Cho, David D; Zack, Donald D; Souied, Eric E; Scholl, Hendrik P N HP; Bala, Elisa E; Lee, Kristine E KE; Hunter, David J DJ; Sardell, Rebecca J RJ; Mitchell, Paul P; Merriam, Joanna E JE; Cipriani, Valentina V; Hoffman, Joshua D JD; Schick, Tina T; Lechanteur, Yara T E YT; Guymer, Robyn H RH; Johnson, Matthew P MP; Jiang, Yingda Y; Stanton, Chloe M CM; Buitendijk, Gabriëlle H S GH; Zhan, Xiaowei X; Kwong, Alan M AM; Boleda, Alexis A; Brooks, Matthew M; Gieser, Linn L; Ratnapriya, Rinki R; Branham, Kari E KE; Foerster, Johanna R JR; Heckenlively, John R JR; Othman, Mohammad I MI; Vote, Brendan J BJ; Liang, Helena Hai HH; Souzeau, Emmanuelle E; McAllister, Ian L IL; Isaacs, Timothy T; Hall, Janette J; Lake, Stewart S; Mackey, David A DA; Constable, Ian J IJ; Craig, Jamie E JE; Kitchner, Terrie E TE; Yang, Zhenglin Z; Su, Zhiguang Z; Luo, Hongrong H; Chen, Daniel D; Ouyang, Hong H; Flagg, Ken K; Lin, Danni D; Mao, Guanping G; Ferreyra, Henry H; Stark, Klaus K; von Strachwitz, Claudia N CN; Wolf, Armin A; Brandl, Caroline C; Rudolph, Guenther G; Olden, Matthias M; Morrison, Margaux A MA; Morgan, Denise J DJ; Schu, Matthew M; Ahn, Jeeyun J; Silvestri, Giuliana G; Tsironi, Evangelia E EE; Park, Kyu Hyung KH; Farrer, Lindsay A LA; Orlin, Anton A; Brucker, Alexander A; Li, Mingyao M; Curcio, Christine A CA; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Audo, Isabelle I; Benchaboune, Mustapha M; Cree, Angela J AJ; Rennie, Christina A CA; Goverdhan, Srinivas V SV; Grunin, Michelle M; Hagbi-Levi, Shira S; Campochiaro, Peter P; Katsanis, Nicholas N; Holz, Frank G FG; Blond, Frédéric F; Blanché, Hélène H; Deleuze, Jean-François JF; Igo, Robert P RP; Truitt, Barbara B; Peachey, Neal S NS; Meuer, Stacy M SM; Myers, Chelsea E CE; Moore, Emily L EL; Klein, Ronald R; Hauser, Michael A MA; Postel, Eric A EA; Courtenay, Monique D MD; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Scott, William K WK; Liew, Gerald G; Tan, Ava G AG; Gopinath, Bamini B; Merriam, John C JC; Smith, R Theodore RT; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; McGrath, J Allie JA; Laux, Reneé R; Brantley, Milam A MA; Agarwal, Anita A; Ersoy, Lebriz L; Caramoy, Albert A; Langmann, Thomas T; Saksens, Nicole T M NT; de Jong, Eiko K EK; Hoyng, Carel B CB; Cain, Melinda S MS; Richardson, Andrea J AJ; Martin, Tammy M TM; Blangero, John J; Weeks, Daniel E DE; Dhillon, Bal B; van Duijn, Cornelia M CM; Doheny, Kimberly F KF; Romm, Jane J; Klaver, Caroline C W CC; Hayward, Caroline C; Gorin, Michael B MB; Klein, Michael L ML; Baird, Paul N PN; den Hollander, Anneke I AI; Fauser, Sascha S; Yates, John R W JR; Allikmets, Rando R; Wang, Jie Jin JJ; Schaumberg, Debra A DA; Klein, Barbara E K BE; Hagstrom, Stephanie A SA; Chowers, Itay I; Lotery, Andrew J AJ; Léveillard, Thierry T; Zhang, Kang K; Brilliant, Murray H MH; Hewitt, Alex W AW; Swaroop, Anand A; Chew, Emily Y EY; Pericak-Vance, Margaret A MA; DeAngelis, Margaret M; Stambolian, Dwight D; Haines, Jonathan L JL; Iyengar, Sudha K SK; Weber, Bernhard H F BH; Abecasis, Gonçalo R GR; Heid, Iris M IM
Publication Date: 2016-02

Variant appearance in text: SLC16A8: 214+1G>C; rs77968014
PubMed Link: 26691988
Variant Present in the following documents:
  • Main text
  • nihms733253.pdf
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: SLC16A8: 214+1G>C; rs77968014
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: SLC16A8: 214+1G>C; rs77968014
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 41
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs77968014
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page