FH c.770A>T ;(p.Y257F)

Variant ID: 1-241669437-T-A

NM_000143.3(FH):c.770A>T;(p.Y257F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: FH: 770A>T; Tyr257Phe
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
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: 770A>T; Tyr257Phe
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Catalytic mechanism of heparinase II investigated by site-directed mutagenesis and the crystal structure with its substrate.

The Journal Of Biological Chemistry
Shaya, David D; Zhao, Wenjing W; Garron, Marie-Line ML; Xiao, Zhongping Z; Cui, Qizhi Q; Zhang, Zhenqing Z; Sulea, Traian T; Linhardt, Robert J RJ; Cygler, Miroslaw M
Publication Date: 2010-06-25

Variant appearance in text: FH: Y257F
PubMed Link: 20404324
Variant Present in the following documents:
  • Main text
View BVdb publication page