Varaico: Literature-Extracted Genetic Variants

Gene:GCG
Variant:p.S3C
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GCG

NM_002054.5:p.S3C

Associated Papers

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

Li C et al.

The Journal of Clinical Investigation, 2023

37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S2__All_Scores_

The universally-conserved transcription factor RfaH is recruited to a hairpin structure of the non-template DNA strand.

Zuber PK et al.

Elife, 2018

Mutational analysis of the function of Met137 and Ile197, two amino acids implicated in sequence-specific DNA recognition by the EcoRI endonuclease.

Ivanenko T et al.

Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."