FH c.427A>G ;(p.T143A)

Variant ID: 1-241675395-T-C

NM_000143.3(FH):c.427A>G;(p.T143A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Reversible phosphorylation of cyclin T1 promotes assembly and stability of P-TEFb.

Elife
Huang, Fang F; Nguyen, Trang Tt TT; Echeverria, Ignacia I; Ramachandran, Rakesh R; Cary, Daniele C DC; Paculova, Hana H; Sali, Andrej A; Weiss, Arthur A; Peterlin, Boris Matija BM; Fujinaga, Koh K
Publication Date: 2021-11-25

Variant appearance in text: FH: T143A
PubMed Link: 34821217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reversible phosphorylation of cyclin T1 promotes assembly and stability of P-TEFb.

Elife
Huang, Fang F; Nguyen, Trang Tt TT; Echeverria, Ignacia I; Rakesh, Ramachandran R; Cary, Daniele C DC; Paculova, Hana H; Sali, Andrej A; Weiss, Arthur A; Peterlin, Boris Matija BM; Fujinaga, Koh K
Publication Date: 2021-11-25

Variant appearance in text: FH: T143A
PubMed Link: 34821217
Variant Present in the following documents:
  • Main text
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: 427A>G; Thr143Ala
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page