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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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