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FH c.644A>G ;(p.H215R)
Variant ID: 1-241671997-T-C
NM_000143.3(
FH
):c.644A>G;(p.H215R)
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:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: FH: H215R
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
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: 644A>G; His215Arg; rs770141324
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 6
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Constitutive expression of insulin receptor substrate (IRS)-1 inhibits myogenic differentiation through nuclear exclusion of Foxo1 in L6 myoblasts.
Plos One
Hakuno, Fumihiko F; Yamauchi, Yoko Y; Kaneko, Gen G; Yoneyama, Yosuke Y; Nakae, Jun J; Chida, Kazuhiro K; Kadowaki, Tatsuhiko T; Yamanouchi, Keitaro K; Nishihara, Masugi M; Takahashi, Shin-Ichiro S
Publication Date: 2011
Variant appearance in text: FH: H215R
PubMed Link:
21991327
Variant Present in the following documents:
Main text
pone.0025655.pdf
View BVdb publication page