MFSD12 c.1335G>C ;(p.A445=)

Variant ID: 19-3544892-C-G

NM_174983.3(MFSD12):c.1335G>C;(p.A445=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: N/A
PubMed Link: 36269797
Variant Present in the following documents:
View BVdb publication page



Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review
Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2022-03

Variant appearance in text: rs56203814
PubMed Link: 35350227
Variant Present in the following documents:
  • nwab124_supplemental_file.pdf
View BVdb publication page



Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open
Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y
Publication Date: 2021-02-09

Variant appearance in text: rs56203814
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.pdf
View BVdb publication page



Evolutionary genetics of skin pigmentation in African populations.

Human Molecular Genetics
Feng, Yuanqing Y; McQuillan, Michael A MA; Tishkoff, Sarah A SA
Publication Date: 2021-04-26

Variant appearance in text: rs56203814
PubMed Link: 33438000
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

Genes
Tanaka, Jocelyn J; Leeb, Tosso T; Rushton, James J; Famula, Thomas R TR; Mack, Maura M; Jagannathan, Vidhya V; Flury, Christine C; Bachmann, Iris I; Eberth, John J; McDonnell, Sue M SM; Penedo, Maria Cecilia T MCT; Bellone, Rebecca R RR
Publication Date: 2019-10-19

Variant appearance in text: rs56203814
PubMed Link: 31635058
Variant Present in the following documents:
  • Main text
  • genes-10-00826.pdf
View BVdb publication page



Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Bmc Genetics
Lona-Durazo, Frida F; Hernandez-Pacheco, Natalia N; Fan, Shaohua S; Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Loftus, Stacie K SK; Le, Phuong P; Edwards, Melissa M; Fortes-Lima, Cesar A CA; Eng, Celeste C; Huntsman, Scott S; Hu, Donglei D; Gómez-Cabezas, Enrique Javier EJ; Marín-Padrón, Lilia Caridad LC; Grauholm, Jonas J; Mors, Ole O; Burchard, Esteban G EG; Norton, Heather L HL; Pavan, William J WJ; Brown, Kevin M KM; Tishkoff, Sarah S; Pino-Yanes, Maria M; Beleza, Sandra S; Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ
Publication Date: 2019-07-17

Variant appearance in text: rs56203814
PubMed Link: 31315583
Variant Present in the following documents:
  • Main text
  • 12863_2019_Article_765.pdf
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A
Publication Date: 2019-01-21

Variant appearance in text: rs56203814
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
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: MFSD12: A445A
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F
Publication Date: 2018-09-08

Variant appearance in text: rs56203814
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
  • ijms-19-02668.pdf
View BVdb publication page



Loci associated with skin pigmentation identified in African populations.

Science (New York, N.Y.)
Crawford, Nicholas G NG; Kelly, Derek E DE; Hansen, Matthew E B MEB; Beltrame, Marcia H MH; Fan, Shaohua S; Bowman, Shanna L SL; Jewett, Ethan E; Ranciaro, Alessia A; Thompson, Simon S; Lo, Yancy Y; Pfeifer, Susanne P SP; Jensen, Jeffrey D JD; Campbell, Michael C MC; Beggs, William W; Hormozdiari, Farhad F; Mpoloka, Sununguko Wata SW; Mokone, Gaonyadiwe George GG; Nyambo, Thomas T; Meskel, Dawit Wolde DW; Belay, Gurja G; Haut, Jake J; , ; Rothschild, Harriet H; Zon, Leonard L; Zhou, Yi Y; Kovacs, Michael A MA; Xu, Mai M; Zhang, Tongwu T; Bishop, Kevin K; Sinclair, Jason J; Rivas, Cecilia C; Elliot, Eugene E; Choi, Jiyeon J; Li, Shengchao A SA; Hicks, Belynda B; Burgess, Shawn S; Abnet, Christian C; Watkins-Chow, Dawn E DE; Oceana, Elena E; Song, Yun S YS; Eskin, Eleazar E; Brown, Kevin M KM; Marks, Michael S MS; Loftus, Stacie K SK; Pavan, William J WJ; Yeager, Meredith M; Chanock, Stephen S; Tishkoff, Sarah A SA
Publication Date: 2017-11-17

Variant appearance in text: rs56203814
PubMed Link: 29025994
Variant Present in the following documents:
  • Main text
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