F8 c.1798G>A ;(p.E600K)

Variant ID: X-154182272-C-T

NM_000132.3(F8):c.1798G>A;(p.E600K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal Of Thrombosis And Haemostasis : Jth
Shinozawa, Keiko K; Amano, Kagehiro K; Hagiwara, Takeshi T; Bingo, Masato M; Chikasawa, Yushi Y; Inaba, Hiroshi H; Kinai, Ei E; Fukutake, Katsuyuki K
Publication Date: 2021-06

Variant appearance in text: F8: 1798G>A
PubMed Link: 33760382
Variant Present in the following documents:
  • Main text
  • JTH-19-1493.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: F8: 1798G>A; E600K
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: F8: 1798G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: F8: E600K
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.

Scientific Reports
Wei, Wei W; Zheng, Chunlei C; Zhu, Min M; Zhu, Xiaofan X; Yang, Renchi R; Misra, Saurav S; Zhang, Bin B
Publication Date: 2017-03-22

Variant appearance in text: FVIII: 1798G>A
PubMed Link: 28327546
Variant Present in the following documents:
  • Main text
View BVdb publication page