TYR c.1185-12688A>C

Variant ID: 11-89005253-A-C

NM_000372.4(TYR):c.1185-12688A>C

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: rs1847134
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs1847134
PubMed Link: 33248005
Variant Present in the following documents:
  • Main text
  • PCMR-34-892.pdf
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs1847134
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



The digital age of melanoma management: detection and diagnostics.

Melanoma Management
Fogel, Alexander L AL; Sarin, Kavita K
Publication Date: 2015-11

Variant appearance in text: rs1847134
PubMed Link: 30190865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
Roos, Leonie L; Sandling, Johanna K JK; Bell, Christopher G CG; Glass, Daniel D; Mangino, Massimo M; Spector, Tim D TD; Deloukas, Panos P; Bataille, Veronique V; Bell, Jordana T JT
Publication Date: 2017-04

Variant appearance in text: rs1847134
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X
Publication Date: 2016

Variant appearance in text: rs1847134
PubMed Link: 26870082
Variant Present in the following documents:
  • Main text
  • fgene-07-00003.pdf
View BVdb publication page



eMERGEing progress in genomics-the first seven years.

Frontiers In Genetics
Crawford, Dana C DC; Crosslin, David R DR; Tromp, Gerard G; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Hayes, M Geoffrey MG; Denny, Joshua C JC; Bush, William S WS; Haines, Jonathan L JL; Roden, Dan M DM; McCarty, Catherine A CA; Jarvik, Gail P GP; Ritchie, Marylyn D MD
Publication Date: 2014

Variant appearance in text: rs1847134
PubMed Link: 24987407
Variant Present in the following documents:
  • Main text
  • fgene-05-00184.pdf
View BVdb publication page



Identification of a melanoma susceptibility locus and somatic mutation in TET2.

Carcinogenesis
Song, Fengju F; Amos, Christopher I CI; Lee, Jeffrey E JE; Lian, Christine G CG; Fang, Shenying S; Liu, Hongliang H; MacGregor, Stuart S; Iles, Mark M MM; Law, Matthew H MH; Lindeman, Neal I NI; Montgomery, Grant W GW; Duffy, David L DL; Cust, Anne E AE; Jenkins, Mark A MA; Whiteman, David C DC; Kefford, Richard F RF; Giles, Graham G GG; Armstrong, Bruce K BK; Aitken, Joanne F JF; Hopper, John L JL; Brown, Kevin M KM; Martin, Nicholas G NG; Mann, Graham J GJ; Bishop, D Timothy DT; Bishop, Julia A Newton JA; , ; Kraft, Peter P; Qureshi, Abrar A AA; Kanetsky, Peter A PA; Hayward, Nicholas K NK; Hunter, David J DJ; Wei, Qingyi Q; Han, Jiali J
Publication Date: 2014-09

Variant appearance in text: rs1847134
PubMed Link: 24980573
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
Denny, Joshua C JC; Bastarache, Lisa L; Ritchie, Marylyn D MD; Carroll, Robert J RJ; Zink, Raquel R; Mosley, Jonathan D JD; Field, Julie R JR; Pulley, Jill M JM; Ramirez, Andrea H AH; Bowton, Erica E; Basford, Melissa A MA; Carrell, David S DS; Peissig, Peggy L PL; Kho, Abel N AN; Pacheco, Jennifer A JA; Rasmussen, Luke V LV; Crosslin, David R DR; Crane, Paul K PK; Pathak, Jyotishman J; Bielinski, Suzette J SJ; Pendergrass, Sarah A SA; Xu, Hua H; Hindorff, Lucia A LA; Li, Rongling R; Manolio, Teri A TA; Chute, Christopher G CG; Chisholm, Rex L RL; Larson, Eric B EB; Jarvik, Gail P GP; Brilliant, Murray H MH; McCarty, Catherine A CA; Kullo, Iftikhar J IJ; Haines, Jonathan L JL; Crawford, Dana C DC; Masys, Daniel R DR; Roden, Dan M DM
Publication Date: 2013-12

Variant appearance in text: rs1847134
PubMed Link: 24270849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic frequencies of 20 visible phenotype variants in the korean population.

Genomics & Informatics
Lim, Ji Eun JE; Oh, Bermseok B
Publication Date: 2013-06

Variant appearance in text: rs1847134
PubMed Link: 23843775
Variant Present in the following documents:
  • Main text
  • gni-11-93.pdf
View BVdb publication page



Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J
Publication Date: 2010-06-24

Variant appearance in text: rs1847134
PubMed Link: 20585627
Variant Present in the following documents:
  • Main text
  • pgen.1000993.s007.pdf
  • pgen.1000993.pdf
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Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

The New England Journal Of Medicine
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Gowan, Katherine K; Riccardi, Sheri L SL; Holland, Paulene J PJ; Mailloux, Christina M CM; Sufit, Alexandra J D AJ; Hutton, Saunie M SM; Amadi-Myers, Anita A; Bennett, Dorothy C DC; Wallace, Margaret R MR; McCormack, Wayne T WT; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Picardo, Mauro M; Leone, Giovanni G; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; van Geel, Nanny N; Lambert, Jo J; Overbeck, Andreas A; Spritz, Richard A RA
Publication Date: 2010-05-06

Variant appearance in text: rs1847134
PubMed Link: 20410501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of tanning phenotype in a population of European ancestry.

The Journal Of Investigative Dermatology
Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J
Publication Date: 2009-09

Variant appearance in text: rs1847134
PubMed Link: 19340012
Variant Present in the following documents:
  • Main text
View BVdb publication page