FH c.1111A>G ;(p.K371E)

Variant ID: 1-241665868-T-C

NM_000143.3(FH):c.1111A>G;(p.K371E)

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: 1111A>G; Lys371Glu
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Extensive genetic diversity of Plasmodium vivax dbp-II in Rio de Janeiro Atlantic Forest and Brazilian Amazon Basin: evidence of positive selection.

Malaria Journal
Almeida-de-Oliveira, Natália Ketrin NK; Lima-Cury, Lidiane L; de Abreu-Fernandes, Rebecca R; de Rosa Lavigne, Aline A; de Pina-Costa, Anielle A; de Souza Perce-da-Silva, Daiana D; Catanho, Marcos M; Brasil, Patrícia P; Daniel-Ribeiro, Cláudio Tadeu CT; Ferreira-da-Cruz, Maria de Fátima MF
Publication Date: 2020-02-19

Variant appearance in text: FH: K371E
PubMed Link: 32075659
Variant Present in the following documents:
  • 12936_2020_Article_3159.pdf
View BVdb publication page



Diversity pattern of Duffy binding protein sequence among Duffy-negatives and Duffy-positives in Sudan.

Malaria Journal
Hoque, Mohammad Rafiul MR; Elfaki, Mohammed Mohieldien Abbas MMA; Ahmed, Md Atique MA; Lee, Seong-Kyun SK; Muh, Fauzi F; Ali Albsheer, Musab M MM; Hamid, Muzamil Mahdi Abdel MMA; Han, Eun-Taek ET
Publication Date: 2018-08-17

Variant appearance in text: FH: K371E
PubMed Link: 30119671
Variant Present in the following documents:
  • Main text
View BVdb publication page