FH c.1002T>G ;(p.S334R)

Variant ID: 1-241667448-A-C

NM_000143.3(FH):c.1002T>G;(p.S334R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Single-cell transcriptomes underscore genetically distinct tumor characteristics and microenvironment for hereditary kidney cancers.

Iscience
Jikuya, Ryosuke R; Murakami, Koichi K; Nishiyama, Akira A; Kato, Ikuma I; Furuya, Mitsuko M; Nakabayashi, Jun J; Ramilowski, Jordan A JA; Hamanoue, Haruka H; Maejima, Kazuhiro K; Fujita, Masashi M; Mitome, Taku T; Ohtake, Shinji S; Noguchi, Go G; Kawaura, Sachi S; Odaka, Hisakazu H; Kawahara, Takashi T; Komeya, Mitsuru M; Shinoki, Risa R; Ueno, Daiki D; Ito, Hiroki H; Ito, Yusuke Y; Muraoka, Kentaro K; Hayashi, Narihiko N; Kondo, Keiichi K; Nakaigawa, Noboru N; Hatano, Koji K; Baba, Masaya M; Suda, Toshio T; Kodama, Tatsuhiko T; Fujii, Satoshi S; Makiyama, Kazuhide K; Yao, Masahiro M; Shuch, Brian M BM; Schmidt, Laura S LS; Linehan, W Marston WM; Nakagawa, Hidewaki H; Tamura, Tomohiko T; Hasumi, Hisashi H
Publication Date: 2022-06-17

Variant appearance in text: FH: Ser334Arg
PubMed Link: 35874919
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation
Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K
Publication Date: 2022-01-17

Variant appearance in text: FH: 1002T>G; Ser334Arg
PubMed Link: 35034951
Variant Present in the following documents:
  • 41439_2021_180_MOESM1_ESM.pdf
View BVdb publication page



A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation
Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K
Publication Date: 2022-01-17

Variant appearance in text: FH: 1002T>G; Ser334Arg
PubMed Link: 35034951
Variant Present in the following documents:
  • 41439_2021_180_MOESM1_ESM.pdf
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: 1002T>G; Ser334Arg
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Familial Cancer
Hol, J A JA; Jongmans, M C J MCJ; Littooij, A S AS; de Krijger, R R RR; Kuiper, R P RP; van Harssel, J J T JJT; Mensenkamp, A A; Simons, M M; Tytgat, G A M GAM; van den Heuvel-Eibrink, M M MM; van Grotel, M M
Publication Date: 2020-01

Variant appearance in text: FH: 1002T>G
PubMed Link: 31792767
Variant Present in the following documents:
  • Main text
  • 10689_2019_Article_155.pdf
View BVdb publication page



The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02

Variant appearance in text: FH: 1002T>G
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.

Endocrine-Related Cancer
Aissani, Brahim B; Zhang, Kui K; Mensenkamp, Arjen R AR; Menko, Fred H FH; Wiener, Howard W HW
Publication Date: 2015-08

Variant appearance in text: FH: Ser334Arg
PubMed Link: 26113603
Variant Present in the following documents:
  • Main text
  • ERC150208.pdf
View BVdb publication page



Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.

Bmc Research Notes
Kuwada, Masaomi M; Chihara, Yoshitomo Y; Lou, Yi Y; Torimoto, Kazumasa K; Kagebayashi, Yoriaki Y; Tamura, Kenji K; Shuin, Taro T; Fujimoto, Kiyohide K; Kuniyasu, Hiroki H; Samma, Shoji S
Publication Date: 2014-03-31

Variant appearance in text: FH: 1002T>G
PubMed Link: 24684806
Variant Present in the following documents:
  • 1756-0500-7-203.pdf
View BVdb publication page



Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.

Familial Cancer
van Spaendonck-Zwarts, Karin Y KY; Badeloe, Sadhanna S; Oosting, Sjoukje F SF; Hovenga, Sjoerd S; Semmelink, Harry J F HJ; van Moorselaar, R Jeroen A RJ; van Waesberghe, Jan Hein JH; Mensenkamp, Arjen R AR; Menko, Fred H FH
Publication Date: 2012-03

Variant appearance in text: FH: 1002T>G; Ser334Arg
PubMed Link: 22086304
Variant Present in the following documents:
  • Main text
  • 10689_2011_Article_9491.pdf
View BVdb publication page



Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease
Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U
Publication Date: 2011-06

Variant appearance in text: FH: 1002T>G; S334R
PubMed Link: 21445611
Variant Present in the following documents:
  • Main text
  • 10545_2011_Article_9294.pdf
View BVdb publication page