FCGRT c.396G>C ;(p.K132N)

Variant ID: 19-50017538-G-C

NM_001136019.2(FCGRT):c.396G>C;(p.K132N)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Leukemia relapse via genetic immune escape after allogeneic hematopoietic cell transplantation.

Nature Communications
Pagliuca, Simona S; Gurnari, Carmelo C; Hercus, Colin C; Hergalant, Sébastien S; Hong, Sanghee S; Dhuyser, Adele A; D'Aveni, Maud M; Aarnink, Alice A; Rubio, Marie Thérèse MT; Feugier, Pierre P; Ferraro, Francesca F; Carraway, Hetty E HE; Sobecks, Ronald R; Hamilton, Betty K BK; Majhail, Navneet S NS; Visconte, Valeria V; Maciejewski, Jaroslaw P JP
Publication Date: 2023-05-31

Variant appearance in text: FCGRT: K132N; rs150420714
PubMed Link: 37258544
Variant Present in the following documents:
  • 41467_2023_38113_MOESM5_ESM.xlsx, sheet 6
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: FCGRT: K132N
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: FCGRT: K132N
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: FCGRT: K132N; rs150420714
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Rare coding variants pinpoint genes that control human hematological traits.

Plos Genetics
Mousas, Abdou A; Ntritsos, Georgios G; Chen, Ming-Huei MH; Song, Ci C; Huffman, Jennifer E JE; Tzoulaki, Ioanna I; Elliott, Paul P; Psaty, Bruce M BM; , ; Auer, Paul L PL; Johnson, Andrew D AD; Evangelou, Evangelos E; Lettre, Guillaume G; Reiner, Alexander P AP
Publication Date: 2017-08

Variant appearance in text: rs150420714
PubMed Link: 28787443
Variant Present in the following documents:
  • Main text
  • pgen.1006925.pdf
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: FCGRT: 396G>C; Lys132Asn
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics
Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U
Publication Date: 2015-07-01

Variant appearance in text: FCGRT: 396G>C; K132N
PubMed Link: 25855803
Variant Present in the following documents:
  • supp_ddv117_ddv117supp_table2.xls, sheet 1
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: FCGRT: K132N
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: FCGRT: K132N
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



The mutational landscape of lethal castration-resistant prostate cancer.

Nature
Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA
Publication Date: 2012-07-12

Variant appearance in text: FCGRT: K132N
PubMed Link: 22722839
Variant Present in the following documents:
  • NIHMS368879-supplement-2.xlsx, sheet 4
View BVdb publication page