PC c.728G>T ;(p.R243L)

Variant ID: 11-66638269-C-A

NM_001040716.1(PC):c.728G>T;(p.R243L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.

Cell Reports
Velez, Gabriel G; Sun, Young Joo YJ; Khan, Saif S; Yang, Jing J; Herrmann, Jonathan J; Chemudupati, Teja T; MacLaren, Robert E RE; Gakhar, Lokesh L; Wakatsuki, Soichi S; Bassuk, Alexander G AG; Mahajan, Vinit B VB
Publication Date: 2020-01-21

Variant appearance in text: PC: R243L
PubMed Link: 31968260
Variant Present in the following documents:
  • Main text
  • nihms-1551551.pdf
  • NIHMS1551551-supplement-2.pdf
View BVdb publication page