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TEK c.309A>T ;(p.E103D)
Variant ID: 9-27158085-A-T
NM_000459.3(
TEK
):c.309A>T;(p.E103D)
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:
Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.
Rsc Advances
Shah, Bakht Ramin BR; Xu, Wei W; Mraz, Jan J
Publication Date: 2019-07-01
Variant appearance in text: TEK: E103D
PubMed Link:
35515562
Variant Present in the following documents:
Main text
RA-009-C9RA03674A.pdf
View BVdb publication page
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
Human Genetics
Kabra, Meha M; Zhang, Wei W; Rathi, Sonika S; Mandal, Anil K AK; Senthil, Sirisha S; Pyatla, Goutham G; Ramappa, Muralidhar M; Banerjee, Seema S; Shekhar, Konegari K; Marmamula, Srinivas S; Mettla, Asha L AL; Kaur, Inderjeet I; Khanna, Rohit C RC; Khanna, Hemant H; Chakrabarti, Subhabrata S
Publication Date: 2017-08
Variant appearance in text: TEK: E103D
PubMed Link:
28620713
Variant Present in the following documents:
Main text
View BVdb publication page
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
Bmc Medical Genetics
Netravathi, Manjunath M; Kumari, Renu R; Kapoor, Saketh S; Dakle, Pushkar P; Dwivedi, Manish Kumar MK; Roy, Sumitabho Deb SD; Pandey, Paritosh P; Saini, Jitender J; Ramakrishna, Anil A; Navalli, Devaraddi D; Satishchandra, Parthasarathy P; Pal, Pramod Kumar PK; Kumar, Arun A; Faruq, Mohammed M
Publication Date: 2015-02-10
Variant appearance in text: TEK: E103D
PubMed Link:
25928698
Variant Present in the following documents:
Main text
12881_2015_Article_151.pdf
View BVdb publication page