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ABCA1 c.630A>C ;(p.E210D)
Variant ID: 9-107620893-T-G
NM_005502.3(
ABCA1
):c.630A>C;(p.E210D)
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:
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: ABCA1: E210D
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Anticancer activity of the cholesterol exporter ABCA1 gene.
Cell Reports
Smith, Bradley B; Land, Hartmut H
Publication Date: 2012-09-27
Variant appearance in text: ABCA1: E210D
PubMed Link:
22981231
Variant Present in the following documents:
Main text
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: ABCA1: E210D
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page