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ABCA4 c.5933_5934delinsTG ;(p.K1978M)
Variant ID: 1-94473261-TT-CA
NM_000350.2(
ABCA4
):c.5933_5934delinsTG;(p.K1978M)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional characterization of ABCA4 genetic variants related to Stargardt disease.
Scientific Reports
Kim, Bo Min BM; Song, Hyo Sook HS; Kim, Jin-Young JY; Kwon, Eun Young EY; Ha, Seung Yeon SY; Kim, Minsuk M; Choi, Ji Ha JH
Publication Date: 2022-12-24
Variant appearance in text: ABCA4: Lys1978Met
PubMed Link:
36566289
Variant Present in the following documents:
Main text
41598_2022_Article_26912.pdf
View BVdb publication page
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.
Human Mutation
Curtis, Susan B SB; Molday, Laurie L LL; Garces, Fabian A FA; Molday, Robert S RS
Publication Date: 2020-11
Variant appearance in text: ABCA4: Lys1978Met
PubMed Link:
32845050
Variant Present in the following documents:
Main text
View BVdb publication page
Expression, purification and structural properties of ABC transporter ABCA4 and its individual domains.
Protein Expression And Purification
Tsybovsky, Yaroslav Y; Palczewski, Krzysztof K
Publication Date: 2014-05
Variant appearance in text: ABCA4: K1978M
PubMed Link:
24583180
Variant Present in the following documents:
Main text
View BVdb publication page
ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.
Nature Communications
Quazi, Faraz F; Lenevich, Stepan S; Molday, Robert S RS
Publication Date: 2012-06-26
Variant appearance in text: ABCA4: K1978M
PubMed Link:
22735453
Variant Present in the following documents:
Main text
ncomms1927-s1.pdf
ncomms1927.pdf
View BVdb publication page
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.
Progress In Lipid Research
Molday, Robert S RS; Zhang, Kang K
Publication Date: 2010-10
Variant appearance in text: ABCA4: K1978M
PubMed Link:
20633576
Variant Present in the following documents:
Main text
View BVdb publication page
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Biochimica Et Biophysica Acta
Molday, Robert S RS; Zhong, Ming M; Quazi, Faraz F
Publication Date: 2009-07
Variant appearance in text: ABCA4: K1978M
PubMed Link:
19230850
Variant Present in the following documents:
Main text
View BVdb publication page