ABCA1 c.6325G>A ;(p.A2109T)

Variant ID: 9-107548655-C-T

NM_005502.3(ABCA1):c.6325G>A;(p.A2109T)

This variant was identified in 4 publications

View GRCh38 version.




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: A2109T
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: A2109T
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: A2109T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society
Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A
Publication Date: 2010-11

Variant appearance in text: ABCA1: A2109T
PubMed Link: 20799350
Variant Present in the following documents:
  • Main text
View BVdb publication page