PC c.1217G>T ;(p.R406L)

Variant ID: 11-66631396-C-A

NM_001040716.1(PC):c.1217G>T;(p.R406L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PC: R406L
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
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Molecular basis for sterol transport by StART-like lipid transfer domains.

The Embo Journal
Horenkamp, Florian A FA; Valverde, Diana P DP; Nunnari, Jodi J; Reinisch, Karin M KM
Publication Date: 2018-03-15

Variant appearance in text: PC: R406L
PubMed Link: 29467216
Variant Present in the following documents:
  • Main text
View BVdb publication page