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ABCA1 c.1000_1001delinsGC ;(p.F334A)
Variant ID: 9-107602613-AA-GC
NM_005502.3(
ABCA1
):c.1000_1001delinsGC;(p.F334A)
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:
Role of Conserved Proline Residues in Human Apolipoprotein A-IV Structure and Function.
The Journal Of Biological Chemistry
Deng, Xiaodi X; Walker, Ryan G RG; Morris, Jamie J; Davidson, W Sean WS; Thompson, Thomas B TB
Publication Date: 2015-04-24
Variant appearance in text: ABCA1: F334A
PubMed Link:
25733664
Variant Present in the following documents:
Main text
View BVdb publication page
Purification of recombinant apolipoproteins A-I and A-IV and efficient affinity tag cleavage by tobacco etch virus protease.
Journal Of Lipid Research
Tubb, Matthew R MR; Smith, Loren E LE; Davidson, W Sean WS
Publication Date: 2009-07
Variant appearance in text: ABCA1: F334A
PubMed Link:
19318686
Variant Present in the following documents:
Main text
View BVdb publication page