FH c.173G>C ;(p.G58A)

Variant ID: 1-241680576-C-G

NM_000143.3(FH):c.173G>C;(p.G58A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 173G>C; Gly58Ala
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



TBP-like Protein (TLP) Disrupts the p53-MDM2 Interaction and Induces Long-lasting p53 Activation.

The Journal Of Biological Chemistry
Maeda, Ryo R; Tamashiro, Hiroyuki H; Takano, Kazunori K; Takahashi, Hiro H; Suzuki, Hidefumi H; Saito, Shinta S; Kojima, Waka W; Adachi, Noritaka N; Ura, Kiyoe K; Endo, Takeshi T; Tamura, Taka-Aki TA
Publication Date: 2017-02-24

Variant appearance in text: FH: G58A
PubMed Link: 28082682
Variant Present in the following documents:
  • Main text
View BVdb publication page