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HR c.1123_1124inv ;(p.H375C)
Variant ID: 8-21984831-TG-CA
NM_005144.4(
HR
):c.1123_1124inv;(p.H375C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Catalysis of transthiolacylation in the active centers of dihydrolipoamide acyltransacetylase components of 2-oxo acid dehydrogenase complexes.
Febs Open Bio
Chakraborty, Joydeep J; Nemeria, Natalia S NS; Farinas, Edgardo E; Jordan, Frank F
Publication Date: 2018-06
Variant appearance in text: HR: His375Cys
PubMed Link:
29928569
Variant Present in the following documents:
Main text
FEB4-8-880.pdf
View BVdb publication page