FRG1 c.330G>T ;(p.K110N)

Variant ID: 4-190876204-G-T

NM_004477.2(FRG1):c.330G>T;(p.K110N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021

Variant appearance in text: FRG1: 330G>T; Lys110Asn
PubMed Link: 34552580
Variant Present in the following documents:
  • DataSheet_3.xlsx, sheet 6
View BVdb publication page



Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16

Variant appearance in text: FRG1: K110N; rs3207892
PubMed Link: 33796225
Variant Present in the following documents:
  • oncotarget-12-578-s005.xlsx, sheet 1
View BVdb publication page



Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro.

Journal Of Ovarian Research
Cai, Xuzi X; Fu, Huijiao H; Wang, Yan Y; Liu, Qiwen Q; Wang, Xuefeng X
Publication Date: 2020-11-21

Variant appearance in text: FRG1: K110N
PubMed Link: 33220708
Variant Present in the following documents:
  • Main text
  • 13048_2020_Article_740.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3207892
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell
Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML
Publication Date: 2017-08-24

Variant appearance in text: FRG1: K110N
PubMed Link: 28841418
Variant Present in the following documents:
  • mmc4.xls, sheet 5
  • mmc1.xls, sheet 1
  • mmc1.xls, sheet 3
  • mmc4.xls, sheet 3
  • mmc1.xls, sheet 4
  • mmc4.xls, sheet 2
  • mmc5.xls, sheet 2
  • mmc1.xls, sheet 5
  • mmc1.xls, sheet 2
  • mmc4.xls, sheet 4
View BVdb publication page



Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Genome Medicine
Ryland, Georgina L GL; Hunter, Sally M SM; Doyle, Maria A MA; Caramia, Franco F; Li, Jason J; Rowley, Simone M SM; Christie, Michael M; Allan, Prue E PE; Stephens, Andrew N AN; Bowtell, David D L DD; , ; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015

Variant appearance in text: FRG1: 330G>T; Lys110Asn
PubMed Link: 26257827
Variant Present in the following documents:
  • 13073_2015_210_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: FRG1: K110N; rs3207892
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: FRG1: K110N
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page