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SI c.388_389delinsGC ;(p.L130A)
Variant ID: 3-164786604-AA-GC
NM_001041.3(
SI
):c.388_389delinsGC;(p.L130A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Alteration of substrate specificity of alanine dehydrogenase.
Protein Engineering, Design & Selection : Peds
Fernandes, Puja P; Aldeborgh, Hannah H; Carlucci, Lauren L; Walsh, Lauren L; Wasserman, Jordan J; Zhou, Edward E; Lefurgy, Scott T ST; Mundorff, Emily C EC
Publication Date: 2015-02
Variant appearance in text: SI: L130A
PubMed Link:
25538307
Variant Present in the following documents:
Main text
View BVdb publication page
Structure of the Mg-chelatase cofactor GUN4 reveals a novel hand-shaped fold for porphyrin binding.
Plos Biology
Verdecia, Mark A MA; Larkin, Robert M RM; Ferrer, Jean-Luc JL; Riek, Roland R; Chory, Joanne J; Noel, Joseph P JP
Publication Date: 2005-05
Variant appearance in text: SI: L130A
PubMed Link:
15884974
Variant Present in the following documents:
pbio.0030151.pdf
View BVdb publication page