DCT c.1180-122A>G

Variant ID: 13-95096013-T-C

NM_001922.3(DCT):c.1180-122A>G

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1407995
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs1407995
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1407995
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.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: rs1407995
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
  • ijms-19-02668.pdf
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
Deng, Lian L; Xu, Shuhua S
Publication Date: 2018

Variant appearance in text: rs1407995
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
  • 41065_2017_Article_36.pdf
View BVdb publication page



Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago.

Science Advances
Siska, Veronika V; Jones, Eppie Ruth ER; Jeon, Sungwon S; Bhak, Youngjune Y; Kim, Hak-Min HM; Cho, Yun Sung YS; Kim, Hyunho H; Lee, Kyusang K; Veselovskaya, Elizaveta E; Balueva, Tatiana T; Gallego-Llorente, Marcos M; Hofreiter, Michael M; Bradley, Daniel G DG; Eriksson, Anders A; Pinhasi, Ron R; Bhak, Jong J; Manica, Andrea A
Publication Date: 2017-02

Variant appearance in text: rs1407995
PubMed Link: 28164156
Variant Present in the following documents:
  • 1601877_SM.pdf
View BVdb publication page



An exome array study of the plasma metabolome.

Nature Communications
Rhee, Eugene P EP; Yang, Qiong Q; Yu, Bing B; Liu, Xuan X; Cheng, Susan S; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Ho, Jennifer E JE; Levy, Daniel D; Florez, Jose C JC; Kathiresan, Sek S; Larson, Martin G MG; Vasan, Ramachandran S RS; Clish, Clary B CB; Wang, Thomas J TJ; Boerwinkle, Eric E; O'Donnell, Christopher J CJ; Gerszten, Robert E RE
Publication Date: 2016-07-25

Variant appearance in text: rs1407995
PubMed Link: 27453504
Variant Present in the following documents:
  • ncomms12360.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1407995
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



A probabilistic method for testing and estimating selection differences between populations.

Genome Research
He, Yungang Y; Wang, Minxian M; Huang, Xin X; Li, Ran R; Xu, Hongyang H; Xu, Shuhua S; Jin, Li L
Publication Date: 2015-12

Variant appearance in text: rs1407995
PubMed Link: 26463656
Variant Present in the following documents:
  • 1903.pdf
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: rs1407995
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
  • gb-2012-13-9-248.pdf
View BVdb publication page



Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.

Plos Genetics
Edwards, Melissa M; Bigham, Abigail A; Tan, Jinze J; Li, Shilin S; Gozdzik, Agnes A; Ross, Kendra K; Jin, Li L; Parra, Esteban J EJ
Publication Date: 2010-03-05

Variant appearance in text: rs1407995
PubMed Link: 20221248
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1407995
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.

Bmc Evolutionary Biology
Alonso, Santos S; Izagirre, Neskuts N; Smith-Zubiaga, Isabel I; Gardeazabal, Jesús J; Díaz-Ramón, José Luís JL; Díaz-Pérez, José Luís JL; Zelenika, Diana D; Boyano, María Dolores MD; Smit, Nico N; de la Rúa, Concepción C
Publication Date: 2008-02-29

Variant appearance in text: rs1407995
PubMed Link: 18312627
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: rs1407995
PubMed Link: 17999355
Variant Present in the following documents:
  • Main text
View BVdb publication page