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F2 c.1669G>A ;(p.E557K)
Variant ID: 11-46760612-G-A
NM_000506.3(
F2
):c.1669G>A;(p.E557K)
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:
The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.
Investigative Ophthalmology & Visual Science
Jiang, Yi Y; Zhou, Lin L; Wang, Yingwei Y; Ouyang, Jiamin J; Li, Shiqiang S; Xiao, Xueshan X; Jia, Xiaoyun X; Wang, Junwen J; Yi, Zhen Z; Sun, Wenmin W; Jiao, Xiaodong X; Wang, Panfeng P; Hejtmancik, J Fielding JF; Zhang, Qingjiong Q
Publication Date: 2023-03-01
Variant appearance in text: F2: 1669G>A; Glu557Lys
PubMed Link:
36917121
Variant Present in the following documents:
Main text
iovs-64-3-24.pdf
View BVdb publication page
Genetic analysis reveals candidate genes for activity QTL in the blind Mexican tetra, Astyanax mexicanus.
Peerj
Carlson, Brian M BM; Klingler, Ian B IB; Meyer, Bradley J BJ; Gross, Joshua B JB
Publication Date: 2018
Variant appearance in text: F2: Glu557Lys
PubMed Link:
30042884
Variant Present in the following documents:
Main text
peerj-06-5189.pdf
View BVdb publication page