FAM20A c.1207G>A ;(p.D403N)

Variant ID: 17-66537002-C-T

NM_017565.3(FAM20A):c.1207G>A;(p.D403N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: FAM20A: D403N
PubMed Link: 33759783
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Prospects for pharmacological targeting of pseudokinases.

Nature Reviews. Drug Discovery
Kung, Jennifer E JE; Jura, Natalia N
Publication Date: 2019-07

Variant appearance in text: FAM20A: D403N
PubMed Link: 30850748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Frontiers In Physiology
Smith, Claire E L CEL; Poulter, James A JA; Antanaviciute, Agne A; Kirkham, Jennifer J; Brookes, Steven J SJ; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2017

Variant appearance in text: FAM20A: 1207G>A; D403N
PubMed Link: 28694781
Variant Present in the following documents:
  • Main text
  • fphys-08-00435.pdf
View BVdb publication page



A secretory kinase complex regulates extracellular protein phosphorylation.

Elife
Cui, Jixin J; Xiao, Junyu J; Tagliabracci, Vincent S VS; Wen, Jianzhong J; Rahdar, Meghdad M; Dixon, Jack E JE
Publication Date: 2015-03-19

Variant appearance in text: FAM20A: D403N
PubMed Link: 25789606
Variant Present in the following documents:
  • Main text
  • elife06120.pdf
View BVdb publication page



Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet Journal Of Rare Diseases
de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A
Publication Date: 2014-06-14

Variant appearance in text: FAM20A: 1207G>A; Asp403Asn
PubMed Link: 24927635
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-84.pdf
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: FAM20A: 1207G>A; D403N
PubMed Link: 24196488
Variant Present in the following documents:
  • Main text
View BVdb publication page