FH c.988A>G ;(p.T330A)

Variant ID: 1-241667462-T-C

NM_000143.3(FH):c.988A>G;(p.T330A)

This variant was identified in 3 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: 988A>G; Thr330Ala; rs776313200
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
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: 988A>G
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Garlic accelerates red blood cell turnover and splenic erythropoietic gene expression in mice: evidence for erythropoietin-independent erythropoiesis.

Plos One
Akgül, Bünyamin B; Lin, Kai-Wei KW; Ou Yang, Hui-Mei HM; Chen, Yen-Hui YH; Lu, Tzu-Huan TH; Chen, Chien-Hsiun CH; Kikuchi, Tateki T; Chen, Yuan-Tsong YT; Tu, Chen-Pei D CP
Publication Date: 2010-12-29

Variant appearance in text: FH: T330A
PubMed Link: 21206920
Variant Present in the following documents:
  • pone.0015358.pdf
View BVdb publication page