FAM20C c.1136G>A ;(p.G379E)

Variant ID: 7-295878-G-A

NM_020223.3(FAM20C):c.1136G>A;(p.G379E)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: 1136G>A; Gly379Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.

Nature Communications
Koike, Toshiyasu T; Mikami, Tadahisa T; Tamura, Jun-Ichi JI; Kitagawa, Hiroshi H
Publication Date: 2022-12-26

Variant appearance in text: FAM20C: G379E
PubMed Link: 36572689
Variant Present in the following documents:
  • Main text
  • 41467_2022_35687_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_Article_35687.pdf
  • 41467_2022_35687_MOESM1_ESM.pdf
  • 41467_2022_35687_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International Journal Of Molecular Sciences
Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C
Publication Date: 2021-07-27

Variant appearance in text: FAM20C: 1136G>A
PubMed Link: 34360805
Variant Present in the following documents:
  • Main text
  • ijms-22-08039.pdf
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: G379E
PubMed Link: 33759783
Variant Present in the following documents:
  • Main text
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: 1136G>A
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: 1136G>A; Gly379Glu
PubMed Link: 32093234
Variant Present in the following documents:
  • Main text
  • genes-11-00222.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: FAM20C: G379E
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Structure and evolution of the Fam20 kinases.

Nature Communications
Zhang, Hui H; Zhu, Qinyu Q; Cui, Jixin J; Wang, Yuxin Y; Chen, Mark J MJ; Guo, Xing X; Tagliabracci, Vincent S VS; Dixon, Jack E JE; Xiao, Junyu J
Publication Date: 2018-03-23

Variant appearance in text: FAM20C: G379E
PubMed Link: 29572475
Variant Present in the following documents:
  • 41467_2018_Article_3615.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: FAM20C: G379E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



The secretory pathway kinases.

Biochimica Et Biophysica Acta
Sreelatha, Anju A; Kinch, Lisa N LN; Tagliabracci, Vincent S VS
Publication Date: 2015-10

Variant appearance in text: FAM20C: G379E
PubMed Link: 25862977
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAM20A mutations associated with enamel renal syndrome.

Journal Of Dental Research
Wang, S K SK; Reid, B M BM; Dugan, S L SL; Roggenbuck, J A JA; Read, L L; Aref, P P; Taheri, A P H AP; Yeganeh, M Z MZ; Simmer, J P JP; Hu, J C-C JC
Publication Date: 2014-01

Variant appearance in text: FAM20C: 1136G>A; G379E
PubMed Link: 24196488
Variant Present in the following documents:
  • Main text
View BVdb publication page