FH c.157G>T ;(p.E53*)

Variant ID: 1-241680592-C-A

NM_000143.3(FH):c.157G>T;(p.E53*)

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: 157G>T; Glu53*
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
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: 157G>T
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page