TF c.713A>C ;(p.D238A)

Variant ID: 3-133475696-A-C

NM_001063.3(TF):c.713A>C;(p.D238A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Systematic mapping of rRNA 2'-O methylation during frog development and involvement of the methyltransferase Fibrillarin in eye and craniofacial development in Xenopus laevis.

Plos Genetics
Delhermite, Jonathan J; Tafforeau, Lionel L; Sharma, Sunny S; Marchand, Virginie V; Wacheul, Ludivine L; Lattuca, Ruben R; Desiderio, Simon S; Motorin, Yuri Y; Bellefroid, Eric E; Lafontaine, Denis L J DLJ
Publication Date: 2022-01-18

Variant appearance in text: TF: D238A
PubMed Link: 35041640
Variant Present in the following documents:
  • pgen.1010012.pdf
View BVdb publication page


Systematic mapping of rRNA 2'-O methylation during frog development and involvement of the methyltransferase Fibrillarin in eye and craniofacial development in Xenopus laevis.

Plos Genetics
Delhermite, Jonathan J; Tafforeau, Lionel L; Sharma, Sunny S; Marchand, Virginie V; Wacheul, Ludivine L; Lattuca, Ruben R; Desiderio, Simon S; Motorin, Yuri Y; Bellefroid, Eric E; Lafontaine, Denis L J DLJ
Publication Date: 2022-01

Variant appearance in text: TF: D238A
PubMed Link: 35041640
Variant Present in the following documents:
  • pgen.1010012.pdf
View BVdb publication page