KIT c.122C>T ;(p.P41L)

Variant ID: 4-55561732-C-T

NM_000222.2(KIT):c.122C>T;(p.P41L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.

Biomolecules
Gindele, Réka R; Pénzes-Daku, Krisztina K; Balogh, Gábor G; Kállai, Judit J; Bogáti, Réka R; Bécsi, Bálint B; Erdődi, Ferenc F; Katona, Éva É; Bereczky, Zsuzsanna Z
Publication Date: 2021-04-08

Variant appearance in text: KIT: Pro41Leu
PubMed Link: 33917853
Variant Present in the following documents:
  • Main text
View BVdb publication page



RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Scientific Reports
Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y
Publication Date: 2018-01-12

Variant appearance in text: KIT: P41L
PubMed Link: 29330521
Variant Present in the following documents:
  • 41598_2017_18851_MOESM2_ESM.xlsx, sheet 1
  • 41598_2017_18851_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page