FH c.106T>C ;(p.F36L)

Variant ID: 1-241682917-A-G

NM_000143.3(FH):c.106T>C;(p.F36L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 106T>C; Phe36Leu
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



FKBP Ligands-Where We Are and Where to Go?

Frontiers In Pharmacology
Kolos, Jürgen M JM; Voll, Andreas M AM; Bauder, Michael M; Hausch, Felix F
Publication Date: 2018

Variant appearance in text: FH: F36L
PubMed Link: 30568592
Variant Present in the following documents:
  • Main text
  • fphar-09-01425.pdf
View BVdb publication page



Engineered ligand-based VEGFR antagonists with increased receptor binding affinity more effectively inhibit angiogenesis.

Bioengineering & Translational Medicine
Kapur, Shiven S; Silverman, Adam P AP; Ye, Anne Z AZ; Papo, Niv N; Jindal, Darren D; Blumenkranz, Mark S MS; Cochran, Jennifer R JR
Publication Date: 2017-03

Variant appearance in text: FH: F36L
PubMed Link: 28516164
Variant Present in the following documents:
  • BTM2-2-081.pdf
View BVdb publication page