HR c.167C>T ;(p.T56I)

Variant ID: 8-21986517-G-A

NM_005144.4(HR):c.167C>T;(p.T56I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 167C>T; Thr56Ile
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017

Variant appearance in text: HR: 167C>T
PubMed Link: 28590501
Variant Present in the following documents:
  • 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page



6-bromohypaphorine from marine nudibranch mollusk Hermissenda crassicornis is an agonist of human α7 nicotinic acetylcholine receptor.

Marine Drugs
Kasheverov, Igor E IE; Shelukhina, Irina V IV; Kudryavtsev, Denis S DS; Makarieva, Tatyana N TN; Spirova, Ekaterina N EN; Guzii, Alla G AG; Stonik, Valentin A VA; Tsetlin, Victor I VI
Publication Date: 2015-03-12

Variant appearance in text: HR: Thr56Ile
PubMed Link: 25775422
Variant Present in the following documents:
  • Main text
  • marinedrugs-13-01255.pdf
View BVdb publication page