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.




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