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HP c.925_926delinsGC ;(p.C309A)
Variant ID: 16-72094493-TG-GC
NM_005143.3(
HP
):c.925_926delinsGC;(p.C309A)
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:
Structural insights of a hormone sensitive lipase homologue Est22.
Scientific Reports
Huang, Jing J; Huo, Ying-Yi YY; Ji, Rui R; Kuang, Siyun S; Ji, Chaoneng C; Xu, Xue-Wei XW; Li, Jixi J
Publication Date: 2016-06-22
Variant appearance in text: HP: C309A
PubMed Link:
27328716
Variant Present in the following documents:
Main text
srep28550.pdf
View BVdb publication page
Inhibition of human acid-sensing ion channel 1b by zinc.
International Journal Of Physiology, Pathophysiology And Pharmacology
Jiang, Qian Q; Zha, Xiang-Ming XM; Chu, Xiang-Ping XP
Publication Date: 2012
Variant appearance in text: HP: C309A
PubMed Link:
22837807
Variant Present in the following documents:
Main text
View BVdb publication page