F8 c.6104T>C ;(p.V2035A)

Variant ID: X-154130337-A-G

NM_000132.3(F8):c.6104T>C;(p.V2035A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: F8: 6104T>C; Val2035Ala
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth
Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K
Publication Date: 2021-10

Variant appearance in text: F8: 6104T>C; Val2035Ala
PubMed Link: 34355501
Variant Present in the following documents:
  • JTH-19-2612-s004.xlsx, sheet 1
View BVdb publication page



Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American Journal Of Human Genetics
Lombardi, Silvia S; Leo, Gabriele G; Merlin, Simone S; Follenzi, Antonia A; McVey, John H JH; Maestri, Iva I; Bernardi, Francesco F; Pinotti, Mirko M; Balestra, Dario D
Publication Date: 2021-08-05

Variant appearance in text: FVIII: 6104T>C
PubMed Link: 34242570
Variant Present in the following documents:
  • Main text
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: V2035A
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Haematologica
Donadon, Irving I; McVey, John H JH; Garagiola, Isabella I; Branchini, Alessio A; Mortarino, Mimosa M; Peyvandi, Flora F; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2018-02

Variant appearance in text: F8: V2035A
PubMed Link: 29170251
Variant Present in the following documents:
  • Main text
  • 1030344.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HEMA: V2035A
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: F8: V2035A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page