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CALR c.394_395delinsGC ;(p.F132A)
Variant ID: 19-13050442-TT-GC
NM_004343.3(
CALR
):c.394_395delinsGC;(p.F132A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Structural basis for a cofactor-dependent oxidation protection and catalysis of cyanobacterial succinic semialdehyde dehydrogenase.
The Journal Of Biological Chemistry
Park, Jinseo J; Rhee, Sangkee S
Publication Date: 2013-05-31
Variant appearance in text: SSA: F132A
PubMed Link:
23589281
Variant Present in the following documents:
Main text
View BVdb publication page
Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins.
The Journal Of Biological Chemistry
Qin, Sheng-Ying SY; Hu, Dan D; Matsumoto, Kana K; Takeda, Koh K; Matsumoto, Naoki N; Yamaguchi, Yoshiki Y; Yamamoto, Kazuo K
Publication Date: 2012-11-02
Variant appearance in text: CRT: F132A
PubMed Link:
22988243
Variant Present in the following documents:
Main text
View BVdb publication page
Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control of α1-antitrypsin.
Molecular Biology Of The Cell
Chen, Yang Y; Hu, Dan D; Yabe, Rikio R; Tateno, Hiroaki H; Qin, Sheng-Ying SY; Matsumoto, Naoki N; Hirabayashi, Jun J; Yamamoto, Kazuo K
Publication Date: 2011-10
Variant appearance in text: CRT: F132A
PubMed Link:
21813736
Variant Present in the following documents:
Main text
3559.pdf
View BVdb publication page