FAT1 c.3008C>T ;(p.A1003V)

Variant ID: 4-187627974-G-A

NM_005245.3(FAT1):c.3008C>T;(p.A1003V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Role of Rho GTPase Interacting Proteins in Subcellular Compartments of Podocytes.

International Journal Of Molecular Sciences
Asano-Matsuda, Kana K; Ibrahim, Sajida S; Takano, Tomoko T; Matsuda, Jun J
Publication Date: 2021-04-01

Variant appearance in text: FAT1: 3008C>T; A1003V
PubMed Link: 33915776
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.

Cen Case Reports
Rossanti, Rini R; Watanabe, Toshio T; Nagano, China C; Hara, Shigeo S; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Sakakibara, Nana N; Ninchoji, Takeshi T; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2021-02

Variant appearance in text: FAT1: A1003V; rs369363545
PubMed Link: 32902815
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAT1 mutations cause a glomerulotubular nephropathy.

Nature Communications
Gee, Heon Yung HY; Sadowski, Carolin E CE; Aggarwal, Pardeep K PK; Porath, Jonathan D JD; Yakulov, Toma A TA; Schueler, Markus M; Lovric, Svjetlana S; Ashraf, Shazia S; Braun, Daniela A DA; Halbritter, Jan J; Fang, Humphrey H; Airik, Rannar R; Vega-Warner, Virginia V; Cho, Kyeong Jee KJ; Chan, Timothy A TA; Morris, Luc G T LG; ffrench-Constant, Charles C; Allen, Nicholas N; McNeill, Helen H; Büscher, Rainer R; Kyrieleis, Henriette H; Wallot, Michael M; Gaspert, Ariana A; Kistler, Thomas T; Milford, David V DV; Saleem, Moin A MA; Keng, Wee Teik WT; Alexander, Stephen I SI; Valentini, Rudolph P RP; Licht, Christoph C; Teh, Jun C JC; Bogdanovic, Radovan R; Koziell, Ania A; Bierzynska, Agnieszka A; Soliman, Neveen A NA; Otto, Edgar A EA; Lifton, Richard P RP; Holzman, Lawrence B LB; Sibinga, Nicholas E S NE; Walz, Gerd G; Tufro, Alda A; Hildebrandt, Friedhelm F
Publication Date: 2016-02-24

Variant appearance in text: FAT1: 3008C>T; A1003V; rs369363545
PubMed Link: 26905694
Variant Present in the following documents:
  • Main text
  • ncomms10822.pdf
View BVdb publication page