TYR c.996G>A ;(p.M332I)

Variant ID: 11-88924546-G-A

NM_000372.4(TYR):c.996G>A;(p.M332I)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Npj Genomic Medicine
Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M
Publication Date: 2023-05-22

Variant appearance in text: TYR: 996G>A; Met332Ile
PubMed Link: 37217489
Variant Present in the following documents:
  • 41525_2023_352_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: TYR: 996G>A; Met332Ile
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes
Chan, Hwei Wuen HW; Schiff, Elena R ER; Tailor, Vijay K VK; Malka, Samantha S; Neveu, Magella M MM; Theodorou, Maria M; Moosajee, Mariya M
Publication Date: 2021-03-30

Variant appearance in text: OCA1: 996G>A
PubMed Link: 33808351
Variant Present in the following documents:
  • Main text
  • genes-12-00508.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TYR: 996G>A; M332I
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Bmc Medical Genetics
Yang, Qi Q; Yi, Sheng S; Li, Mengting M; Xie, Bobo B; Luo, Jinsi J; Wang, Jin J; Rong, Xiuliang X; Zhang, Qinle Q; Qin, Zailong Z; Hang, Limei L; Feng, Shihan S; Fan, Xin X
Publication Date: 2019-06-13

Variant appearance in text: OCA1: 996G>A
PubMed Link: 31196117
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_842.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TYR: 996G>A; Met332Ile
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research
Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV
Publication Date: 2018

Variant appearance in text: OCAIA: M332I
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
View BVdb publication page



Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Bmc Medical Genetics
Prasad, Aparna A; Sdano, Matthew A MA; Vanzo, Rena J RJ; Mowery-Rushton, Patricia A PA; Serrano, Moises A MA; Hensel, Charles H CH; Wassman, E Robert ER
Publication Date: 2018-03-20

Variant appearance in text: TYR: 996G>A; M332I
PubMed Link: 29554876
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_555.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TYR: 996G>A; M332I
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Molecular Vision
Khordadpoor-Deilamani, Faravareh F; Akbari, Mohammad Taghi MT; Karimipoor, Morteza M; Javadi, Gholamreza G
Publication Date: 2015

Variant appearance in text: TYR: 0996G>A
PubMed Link: 26167114
Variant Present in the following documents:
  • Main text
  • mv-v21-730.pdf
View BVdb publication page



Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Plos One
Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M
Publication Date: 2014

Variant appearance in text: OCA1: 996G>A
PubMed Link: 25216246
Variant Present in the following documents:
  • Main text
  • pone.0106656.pdf
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: TYR: M332I
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s5.xls, sheet 1
View BVdb publication page