PTEN c.427_428delinsCA ;(p.G143H)

Variant ID: 10-89692943-GG-CA

NM_000314.4(PTEN):c.427_428delinsCA;(p.G143H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: G143H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Structure of Liver Receptor Homolog-1 (NR5A2) with PIP3 hormone bound in the ligand binding pocket.

Journal Of Structural Biology
Sablin, Elena P EP; Blind, Raymond D RD; Uthayaruban, Rubatharshini R; Chiu, Hsiu-Ju HJ; Deacon, Ashley M AM; Das, Debanu D; Ingraham, Holly A HA; Fletterick, Robert J RJ
Publication Date: 2015-12

Variant appearance in text: PTEN: G143H
PubMed Link: 26416531
Variant Present in the following documents:
  • Main text
View BVdb publication page