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HR c.862_863delinsGC ;(p.H288A)
Variant ID: 8-21985092-TG-GC
NM_005144.4(
HR
):c.862_863delinsGC;(p.H288A)
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:
A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase.
Science Advances
Noda, Kazuo K; Kitagawa, Kaori K; Miki, Takao T; Horiguchi, Masahito M; Akama, Tomoya O TO; Taniguchi, Takako T; Taniguchi, Hisaaki H; Takahashi, Kazuaki K; Ogra, Yasumitsu Y; Mecham, Robert P RP; Terajima, Masahiko M; Yamauchi, Mitsuo M; Nakamura, Tomoyuki T
Publication Date: 2020-11
Variant appearance in text: HR: H288A
PubMed Link:
33239290
Variant Present in the following documents:
Main text
abc1404.pdf
View BVdb publication page
A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase.
Science Advances
Noda, Kazuo K; Kitagawa, Kaori K; Miki, Takao T; Horiguchi, Masahito M; Akama, Tomoya O TO; Taniguchi, Takako T; Taniguchi, Hisaaki H; Takahashi, Kazuaki K; Ogra, Yasumitsu Y; Mecham, Robert P RP; Terajima, Masahiko M; Yamauchi, Mitsuo M; Nakamura, Tomoyuki T
Publication Date: 2020-11
Variant appearance in text: HR: H288A
PubMed Link:
33239290
Variant Present in the following documents:
Main text
abc1404.pdf
View BVdb publication page
Crystal structure of the modification-dependent SRA-HNH endonuclease TagI.
Nucleic Acids Research
Kisiala, Marlena M; Copelas, Alyssa A; Czapinska, Honorata H; Xu, Shuang-Yong SY; Bochtler, Matthias M
Publication Date: 2018-11-02
Variant appearance in text: HR: H288A
PubMed Link:
30202937
Variant Present in the following documents:
gky781_supplemental_files.pdf
View BVdb publication page