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HP c.388G>A ;(p.E130K)
Variant ID: 16-72093033-G-A
NM_005143.3(
HP
):c.388G>A;(p.E130K)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Human Mutation
Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH
Publication Date: 2022-09
Variant appearance in text: HP: 388G>A
PubMed Link:
35475554
Variant Present in the following documents:
HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page
Investigation of the role of Arg301 identified in the X-ray structure of phosphite dehydrogenase.
Biochemistry
Hung, John E JE; Fogle, Emily J EJ; Christman, Harry D HD; Johannes, Tyler W TW; Zhao, Huimin H; Metcalf, William W WW; van der Donk, Wilfred A WA
Publication Date: 2012-05-29
Variant appearance in text: HP: E130K
PubMed Link:
22564138
Variant Present in the following documents:
Main text
bi201691w.pdf
View BVdb publication page