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FH c.108T>G ;(p.F36L)
Variant ID: 1-241682915-A-C
NM_000143.3(
FH
):c.108T>G;(p.F36L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 108T>G; 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