F8 c.1710C>T ;(p.L570=)

Variant ID: X-154185274-G-A

NM_000132.3(F8):c.1710C>T;(p.L570=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: F8: L570L
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: F8: L570L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Molecular Vision
Nowińska, Anna K AK; Wylegala, Edward E; Janiszewska, Dominika A DA; Dobrowolski, Dariusz D; Aragona, Pasquale P; Roszkowska, Anna M AM; Puzzolo, Domenico D
Publication Date: 2011

Variant appearance in text: F8: 1710C>T
PubMed Link: 21921985
Variant Present in the following documents:
  • Main text
  • mv-v17-2333.pdf
View BVdb publication page