FAM20C c.1225C>T ;(p.R409C)

Variant ID: 7-295967-C-T

NM_020223.3(FAM20C):c.1225C>T;(p.R409C)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.

International Journal Of Molecular Sciences
Palma-Lara, Icela I; García Alonso-Themann, Patricia P; Pérez-Durán, Javier J; Godínez-Aguilar, Ricardo R; Bonilla-Delgado, José J; Gómez-Archila, Damián D; Espinosa-García, Ana María AM; Nolasco-Quiroga, Manuel M; Victoria-Acosta, Georgina G; López-Ornelas, Adolfo A; Serrano-Bello, Juan Carlos JC; Olguín-García, María Guadalupe MG; Palacios-Reyes, Carmen C
Publication Date: 2023-05-17

Variant appearance in text: FAM20C: 1225C>T; Arg409Cys
PubMed Link: 37240249
Variant Present in the following documents:
  • ijms-24-08904.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FAM20C: 1225C>T; Arg409Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: FAM20C: 1225C>T; Arg409Cys; rs730882220
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry
Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S
Publication Date: 2021

Variant appearance in text: FAM20C: R409C
PubMed Link: 33759783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: FAM20C: R409C
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Calcified Tissue International
Eltan, Mehmet M; Alavanda, Ceren C; Yavas Abali, Zehra Z; Ergenekon, Pinar P; Yalındag Ozturk, Nilufer N; Sakar, Mustafa M; Dagcinar, Adnan A; Kirkgoz, Tarik T; Kaygusuz, Sare Betul SB; Gokdemir, Yasemin Y; Elcioglu, Huriye Nursel HN; Guran, Tulay T; Bereket, Abdullah A; Ata, Pinar P; Turan, Serap S
Publication Date: 2020-07

Variant appearance in text: FAM20C: 1225C>T
PubMed Link: 32337609
Variant Present in the following documents:
  • 223_2020_Article_694.pdf
View BVdb publication page



Two Novel FAM20C Variants in A Family with Raine Syndrome.

Genes
Hernández-Zavala, Araceli A; Cortés-Camacho, Fernando F; Palma Lara, Icela I; Godinez-Aguilar, Ricardo R; Espinosa-García, Ana María AM; Pérez-Durán, Javier J; Villanueva-Ocampo, Patricia P; Ugarte-Briones, Carlos C; Serrano-Bello, Carlos Alberto CA; Sanchez-Santiago, Paula P; Bonilla-Delgado, José J; Yañez-López, Marco Antonio MA; Victoria-Acosta, Georgina G; López-Ornelas, Adolfo A; García Alonso-Themann, Patricia P; Moreno, José J; Palacios-Reyes, Carmen C
Publication Date: 2020-02-20

Variant appearance in text: FAM20C: 1225C>T; Arg409Cys
PubMed Link: 32093234
Variant Present in the following documents:
  • Main text
  • genes-11-00222.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: FAM20C: R409C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: FAM20C: R409C
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page