FH c.344A>C ;(p.K115T)

Variant ID: 1-241676937-T-G

NM_000143.3(FH):c.344A>C;(p.K115T)

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: 344A>C; Lys115Thr
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: FH: K115T
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Molecular Typing and Carbapenem Resistance Mechanisms of Pseudomonas aeruginosa Isolated From a Chinese Burn Center From 2011 to 2016.

Frontiers In Microbiology
Yin, Supeng S; Chen, Ping P; You, Bo B; Zhang, Yulong Y; Jiang, Bei B; Huang, Guangtao G; Yang, Zichen Z; Chen, Yu Y; Chen, Jing J; Yuan, Zhiqiang Z; Zhao, Yan Y; Li, Ming M; Hu, Fuquan F; Gong, Yali Y; Peng, Yizhi Y
Publication Date: 2018

Variant appearance in text: FH: K115T
PubMed Link: 29896186
Variant Present in the following documents:
  • Main text
  • fmicb-09-01135.pdf
View BVdb publication page