GAA c.1385T>C ;(p.L462P)

Variant ID: 17-78083802-T-C

NM_000152.3(GAA):c.1385T>C;(p.L462P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 1385T>C; Leu462Pro
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Zhang, Xin-Tong XT; Ren, Wei-Dong WD
Publication Date: 2018-07

Variant appearance in text: GAA: Leu462Pro
PubMed Link: 30022764
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: GAA: L462P
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page