EGR1 c.670_671delinsAT ;(p.A224I)

Variant ID: 5-137802808-GC-AT

NM_001964.2(EGR1):c.670_671delinsAT;(p.A224I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15

Variant appearance in text: 225: A224I
PubMed Link: 37317968
Variant Present in the following documents:
  • jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page



Embeddings from protein language models predict conservation and variant effects.

Human Genetics
Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10

Variant appearance in text: 225: A224I
PubMed Link: 34967936
Variant Present in the following documents:
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 19
View BVdb publication page



Quantitative chimeric analysis of six specificity determinants that differentiate Escherichia coli aspartate from tyrosine aminotransferase.

Protein Science : A Publication Of The Protein Society
Shaffer, Wendy A WA; Luong, Tinh N TN; Rothman, Steven C SC; Kirsch, Jack F JF
Publication Date: 2002-12

Variant appearance in text: 225: A224I
PubMed Link: 12441383
Variant Present in the following documents:
  • Main text
View BVdb publication page