HR c.227T>C ;(p.V76A)

Variant ID: 8-21986457-A-G

NM_005144.4(HR):c.227T>C;(p.V76A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SUMOylation promotes protective responses to DNA-protein crosslinks.

The Embo Journal
Borgermann, Nikoline N; Ackermann, Leena L; Schwertman, Petra P; Hendriks, Ivo A IA; Thijssen, Karen K; Liu, Julio Cy JC; Lans, Hannes H; Nielsen, Michael L ML; Mailand, Niels N
Publication Date: 2019-04-15

Variant appearance in text: HR: V76A
PubMed Link: 30914427
Variant Present in the following documents:
  • EMBJ-38-e101496.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 227T>C; Val76Ala
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Mapping leptin-interacting sites in recombinant leptin-binding domain (LBD) subcloned from chicken leptin receptor.

The Biochemical Journal
Niv-Spector, L L; Raver, N N; Friedman-Einat, M M; Grosclaude, J J; Gussakovsky, E E EE; Livnah, O O; Gertler, A A
Publication Date: 2005-09-01

Variant appearance in text: HR: V76A
PubMed Link: 15842201
Variant Present in the following documents:
  • Main text
View BVdb publication page