SLC24A5 c.1122A>C ;(p.L374F)

Variant ID: 15-48433353-A-C

NM_205850.2(SLC24A5):c.1122A>C;(p.L374F)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09

Variant appearance in text: SLC24A5: Leu374Phe
PubMed Link: 33248005
Variant Present in the following documents:
  • PCMR-34-892.pdf
View BVdb publication page



Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.

Plos One
Meyer, Olivia S OS; Lunn, Maja M B MMB; Garcia, Sara L SL; Kjærbye, Anne B AB; Morling, Niels N; Børsting, Claus C; Andersen, Jeppe D JD
Publication Date: 2020

Variant appearance in text: SLC24A5: L374F
PubMed Link: 32915910
Variant Present in the following documents:
  • pone.0239131.pdf
View BVdb publication page



Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S
Publication Date: 2020-12-01

Variant appearance in text: SLC24A5: L374F
PubMed Link: 32333855
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research
Fábos, Beáta B; Farkas, Katalin K; Tóth, Lola L; Sulák, Adrienn A; Tripolszki, Kornélia K; Tihanyi, Mariann M; Németh, Réka R; Vas, Krisztina K; Csoma, Zsanett Z; Kemény, Lajos L; Széll, Márta M; Nagy, Nikoletta N
Publication Date: 2017-06-19

Variant appearance in text: OCA6: Leu374Phe
PubMed Link: 28629449
Variant Present in the following documents:
  • Main text
  • 40001_2017_Article_262.pdf
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Vitamin D status and risk for malignant cutaneous melanoma: recent advances.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Ombra, Maria N MN; Paliogiannis, Panagiotis P; Doneddu, Valentina V; Sini, Maria C MC; Colombino, Maria M; Rozzo, Carla C; Stanganelli, Ignazio I; Tanda, Francesco F; Cossu, Antonio A; Palmieri, Giuseppe G
Publication Date: 2017-11

Variant appearance in text: SLC24A5: L374F
PubMed Link: 28125434
Variant Present in the following documents:
  • Main text
  • cej-26-532.pdf
View BVdb publication page



Adaptations to local environments in modern human populations.

Current Opinion In Genetics & Development
Jeong, Choongwon C; Di Rienzo, Anna A
Publication Date: 2014-12

Variant appearance in text: SLC24A5: L374F
PubMed Link: 25129844
Variant Present in the following documents:
  • Main text
View BVdb publication page



The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.

Plos One
López, Saioa S; García, Oscar O; Yurrebaso, Iñaki I; Flores, Carlos C; Acosta-Herrera, Marialbert M; Chen, Hua H; Gardeazabal, Jesús J; Careaga, Jesús María JM; Boyano, María Dolores MD; Sánchez, Ana A; Ratón-Nieto, Juan Antonio JA; Sevilla, Arrate A; Smith-Zubiaga, Isabel I; de Galdeano, Alicia García AG; Martinez-Cadenas, Conrado C; Izagirre, Neskuts N; de la Rúa, Concepción C; Alonso, Santos S
Publication Date: 2014

Variant appearance in text: SLC24A5: Leu374Phe
PubMed Link: 25093503
Variant Present in the following documents:
  • pone.0104367.pdf
View BVdb publication page



Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.

Nature
Olalde, Iñigo I; Allentoft, Morten E ME; Sánchez-Quinto, Federico F; Santpere, Gabriel G; Chiang, Charleston W K CW; DeGiorgio, Michael M; Prado-Martinez, Javier J; Rodríguez, Juan Antonio JA; Rasmussen, Simon S; Quilez, Javier J; Ramírez, Oscar O; Marigorta, Urko M UM; Fernández-Callejo, Marcos M; Prada, María Encina ME; Encinas, Julio Manuel Vidal JM; Nielsen, Rasmus R; Netea, Mihai G MG; Novembre, John J; Sturm, Richard A RA; Sabeti, Pardis P; Marquès-Bonet, Tomàs T; Navarro, Arcadi A; Willerslev, Eske E; Lalueza-Fox, Carles C
Publication Date: 2014-03-13

Variant appearance in text: SLC24A5: L374F
PubMed Link: 24463515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human pigmentation genes under environmental selection.

Genome Biology
Sturm, Richard A RA; Duffy, David L DL
Publication Date: 2012-09-26

Variant appearance in text: SLC24A5: Leu374Phe
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.

Plos One
Tsetskhladze, Zurab R ZR; Canfield, Victor A VA; Ang, Khai C KC; Wentzel, Steven M SM; Reid, Katherine P KP; Berg, Arthur S AS; Johnson, Stephen L SL; Kawakami, Koichi K; Cheng, Keith C KC
Publication Date: 2012

Variant appearance in text: SLC24A5: L374F
PubMed Link: 23071798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Skin color variation in Orang Asli tribes of Peninsular Malaysia.

Plos One
Ang, Khai C KC; Ngu, Mee S MS; Reid, Katherine P KP; Teh, Mei S MS; Aida, Zamzuraida S ZS; Koh, Danny Xr DX; Berg, Arthur A; Oppenheimer, Stephen S; Salleh, Hood H; Clyde, Mahani M MM; Md-Zain, Badrul M BM; Canfield, Victor A VA; Cheng, Keith C KC
Publication Date: 2012

Variant appearance in text: SLC24A5: L374F
PubMed Link: 22912732
Variant Present in the following documents:
  • Main text
  • pone.0042752.pdf
View BVdb publication page



Evidence for hitchhiking of deleterious mutations within the human genome.

Plos Genetics
Chun, Sung S; Fay, Justin C JC
Publication Date: 2011-08

Variant appearance in text: SLC24A5: L374F
PubMed Link: 21901107
Variant Present in the following documents:
  • Main text
  • pgen.1002240.pdf
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Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences
Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH
Publication Date: 2010-03-01

Variant appearance in text: SLC24A5: L374F
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Skin color in fish and humans: impacts on science and society.

Zebrafish
Cheng, Keith C KC
Publication Date: 2008-12

Variant appearance in text: SLC24A5: Leu374Phe
PubMed Link: 19133821
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics
Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR
Publication Date: 2007-12

Variant appearance in text: SLC24A5: L374F
PubMed Link: 17999355
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide detection and characterization of positive selection in human populations.

Nature
Sabeti, Pardis C PC; Varilly, Patrick P; Fry, Ben B; Lohmueller, Jason J; Hostetter, Elizabeth E; Cotsapas, Chris C; Xie, Xiaohui X; Byrne, Elizabeth H EH; McCarroll, Steven A SA; Gaudet, Rachelle R; Schaffner, Stephen F SF; Lander, Eric S ES; , ; Frazer, Kelly A KA; Ballinger, Dennis G DG; Cox, David R DR; Hinds, David A DA; Stuve, Laura L LL; Gibbs, Richard A RA; Belmont, John W JW; Boudreau, Andrew A; Hardenbol, Paul P; Leal, Suzanne M SM; Pasternak, Shiran S; Wheeler, David A DA; Willis, Thomas D TD; Yu, Fuli F; Yang, Huanming H; Zeng, Changqing C; Gao, Yang Y; Hu, Haoran H; Hu, Weitao W; Li, Chaohua C; Lin, Wei W; Liu, Siqi S; Pan, Hao H; Tang, Xiaoli X; Wang, Jian J; Wang, Wei W; Yu, Jun J; Zhang, Bo B; Zhang, Qingrun Q; Zhao, Hongbin H; Zhao, Hui H; Zhou, Jun J; Gabriel, Stacey B SB; Barry, Rachel R; Blumenstiel, Brendan B; Camargo, Amy A; Defelice, Matthew M; Faggart, Maura M; Goyette, Mary M; Gupta, Supriya S; Moore, Jamie J; Nguyen, Huy H; Onofrio, Robert C RC; Parkin, Melissa M; Roy, Jessica J; Stahl, Erich E; Winchester, Ellen E; Ziaugra, Liuda L; Altshuler, David D; Shen, Yan Y; Yao, Zhijian Z; Huang, Wei W; Chu, Xun X; He, Yungang Y; Jin, Li L; Liu, Yangfan Y; Shen, Yayun Y; Sun, Weiwei W; Wang, Haifeng H; Wang, Yi Y; Wang, Ying Y; Xiong, Xiaoyan X; Xu, Liang L; Waye, Mary M Y MM; Tsui, Stephen K W SK; Xue, Hong H; Wong, J Tze-Fei JT; Galver, Luana M LM; Fan, Jian-Bing JB; Gunderson, Kevin K; Murray, Sarah S SS; Oliphant, Arnold R AR; Chee, Mark S MS; Montpetit, Alexandre A; Chagnon, Fanny F; Ferretti, Vincent V; Leboeuf, Martin M; Olivier, Jean-François JF; Phillips, Michael S MS; Roumy, Stéphanie S; Sallée, Clémentine C; Verner, Andrei A; Hudson, Thomas J TJ; Kwok, Pui-Yan PY; Cai, Dongmei D; Koboldt, Daniel C DC; Miller, Raymond D RD; Pawlikowska, Ludmila L; Taillon-Miller, Patricia P; Xiao, Ming M; Tsui, Lap-Chee LC; Mak, William W; Song, You Qiang YQ; Tam, Paul K H PK; Nakamura, Yusuke Y; Kawaguchi, Takahisa T; Kitamoto, Takuya T; Morizono, Takashi T; Nagashima, Atsushi A; Ohnishi, Yozo Y; Sekine, Akihiro A; Tanaka, Toshihiro T; Tsunoda, Tatsuhiko T; Deloukas, Panos P; Bird, Christine P CP; Delgado, Marcos M; Dermitzakis, Emmanouil T ET; Gwilliam, Rhian R; Hunt, Sarah S; Morrison, Jonathan J; Powell, Don D; Stranger, Barbara E BE; Whittaker, Pamela P; Bentley, David R DR; Daly, Mark J MJ; de Bakker, Paul I W PI; Barrett, Jeff J; Chretien, Yves R YR; Maller, Julian J; McCarroll, Steve S; Patterson, Nick N; Pe'er, Itsik I; Price, Alkes A; Purcell, Shaun S; Richter, Daniel J DJ; Sabeti, Pardis P; Saxena, Richa R; Schaffner, Stephen F SF; Sham, Pak C PC; Varilly, Patrick P; Altshuler, David D; Stein, Lincoln D LD; Krishnan, Lalitha L; Smith, Albert Vernon AV; Tello-Ruiz, Marcela K MK; Thorisson, Gudmundur A GA; Chakravarti, Aravinda A; Chen, Peter E PE; Cutler, David J DJ; Kashuk, Carl S CS; Lin, Shin S; Abecasis, Gonçalo R GR; Guan, Weihua W; Li, Yun Y; Munro, Heather M HM; Qin, Zhaohui Steve ZS; Thomas, Daryl J DJ; McVean, Gilean G; Auton, Adam A; Bottolo, Leonardo L; Cardin, Niall N; Eyheramendy, Susana S; Freeman, Colin C; Marchini, Jonathan J; Myers, Simon S; Spencer, Chris C; Stephens, Matthew M; Donnelly, Peter P; Cardon, Lon R LR; Clarke, Geraldine G; Evans, David M DM; Morris, Andrew P AP; Weir, Bruce S BS; Tsunoda, Tatsuhiko T; Johnson, Todd A TA; Mullikin, James C JC; Sherry, Stephen T ST; Feolo, Michael M; Skol, Andrew A; Zhang, Houcan H; Zeng, Changqing C; Zhao, Hui H; Matsuda, Ichiro I; Fukushima, Yoshimitsu Y; Macer, Darryl R DR; Suda, Eiko E; Rotimi, Charles N CN; Adebamowo, Clement A CA; Ajayi, Ike I; Aniagwu, Toyin T; Marshall, Patricia A PA; Nkwodimmah, Chibuzor C; Royal, Charmaine D M CD; Leppert, Mark F MF; Dixon, Missy M; Peiffer, Andy A; Qiu, Renzong R; Kent, Alastair A; Kato, Kazuto K; Niikawa, Norio N; Adewole, Isaac F IF; Knoppers, Bartha M BM; Foster, Morris W MW; Clayton, Ellen Wright EW; Watkin, Jessica J; Gibbs, Richard A RA; Belmont, John W JW; Muzny, Donna D; Nazareth, Lynne L; Sodergren, Erica E; Weinstock, George M GM; Wheeler, David A DA; Yakub, Imtaz I; Gabriel, Stacey B SB; Onofrio, Robert C RC; Richter, Daniel J DJ; Ziaugra, Liuda L; Birren, Bruce W BW; Daly, Mark J MJ; Altshuler, David D; Wilson, Richard K RK; Fulton, Lucinda L LL; Rogers, Jane J; Burton, John J; Carter, Nigel P NP; Clee, Christopher M CM; Griffiths, Mark M; Jones, Matthew C MC; McLay, Kirsten K; Plumb, Robert W RW; Ross, Mark T MT; Sims, Sarah K SK; Willey, David L DL; Chen, Zhu Z; Han, Hua H; Kang, Le L; Godbout, Martin M; Wallenburg, John C JC; L'Archevêque, Paul P; Bellemare, Guy G; Saeki, Koji K; Wang, Hongguang H; An, Daochang D; Fu, Hongbo H; Li, Qing Q; Wang, Zhen Z; Wang, Renwu R; Holden, Arthur L AL; Brooks, Lisa D LD; McEwen, Jean E JE; Guyer, Mark S MS; Wang, Vivian Ota VO; Peterson, Jane L JL; Shi, Michael M; Spiegel, Jack J; Sung, Lawrence M LM; Zacharia, Lynn F LF; Collins, Francis S FS; Kennedy, Karen K; Jamieson, Ruth R; Stewart, John J
Publication Date: 2007-10-18

Variant appearance in text: SLC24A5: L374F
PubMed Link: 17943131
Variant Present in the following documents:
  • Main text
View BVdb publication page