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GC c.526_527delinsTG ;(p.V176C)
Variant ID: 4-72629600-AC-CA
NM_000583.3(
GC
):c.526_527delinsTG;(p.V176C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Topological analyses of the L-lysine exporter LysO reveal a critical role for a conserved pair of intramembrane solvent-exposed acidic residues.
The Journal Of Biological Chemistry
Dubey, Swati S; Majumder, Puja P; Penmatsa, Aravind A; Sardesai, Abhijit A AA
Publication Date: 2021-10
Variant appearance in text: GC: V176C
PubMed Link:
34487760
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page
The transmembrane prolines of the mitochondrial ADP/ATP carrier are involved in nucleotide binding and transport and its biogenesis.
The Journal Of Biological Chemistry
Babot, Marion M; Blancard, Corinne C; Pelosi, Ludovic L; Lauquin, Guy J-M GJ; Trézéguet, Véronique V
Publication Date: 2012-03-23
Variant appearance in text: GC: V176C
PubMed Link:
22334686
Variant Present in the following documents:
Main text
View BVdb publication page
Stable and unstable cadherin dimers: mechanisms of formation and roles in cell adhesion.
Molecular Biology Of The Cell
Troyanovsky, Regina B RB; Laur, Oscar O; Troyanovsky, Sergey M SM
Publication Date: 2007-11
Variant appearance in text: GC: V176C
PubMed Link:
17761538
Variant Present in the following documents:
Main text
View BVdb publication page