HP c.208G>A ;(p.D70N)

Variant ID: 16-72091308-G-A

NM_005143.3(HP):c.208G>A;(p.D70N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: HP: D70N
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



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: 208G>A
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page



PL1 Peptide Engages Acidic Surfaces on Tumor-Associated Fibronectin and Tenascin Isoforms to Trigger Cellular Uptake.

Pharmaceutics
Lingasamy, Prakash P; Põšnograjeva, Kristina K; Kopanchuk, Sergei S; Tobi, Allan A; Rinken, Ago A; General, Ignacio J IJ; Asciutto, Eliana K EK; Teesalu, Tambet T
Publication Date: 2021-11-24

Variant appearance in text: HP: D70N
PubMed Link: 34959279
Variant Present in the following documents:
  • Main text
View BVdb publication page



PL1 Peptide Engages Acidic Surfaces on Tumor-Associated Fibronectin and Tenascin Isoforms to Trigger Cellular Uptake.

Pharmaceutics
Lingasamy, Prakash P; Põšnograjeva, Kristina K; Kopanchuk, Sergei S; Tobi, Allan A; Rinken, Ago A; General, Ignacio J IJ; Asciutto, Eliana K EK; Teesalu, Tambet T
Publication Date: 2021-11-24

Variant appearance in text: HP: D70N
PubMed Link: 34959279
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of exolytic heparinases and their catalytic mechanism and potential application.

Nature Communications
Zhang, Qingdong Q; Cao, Hai-Yan HY; Wei, Lin L; Lu, Danrong D; Du, Min M; Yuan, Min M; Shi, Deling D; Chen, Xiangxue X; Wang, Peng P; Chen, Xiu-Lan XL; Chi, Lianli L; Zhang, Yu-Zhong YZ; Li, Fuchuan F
Publication Date: 2021-02-24

Variant appearance in text: HP: D70N
PubMed Link: 33627653
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21441.pdf
  • 41467_2021_21441_MOESM2_ESM.pdf
View BVdb publication page



Orotidine 5'-Monophosphate Decarboxylase: Probing the Limits of the Possible for Enzyme Catalysis.

Accounts Of Chemical Research
Richard, John P JP; Amyes, Tina L TL; Reyes, Archie C AC
Publication Date: 2018-04-17

Variant appearance in text: HP: D70N
PubMed Link: 29595949
Variant Present in the following documents:
  • Main text
  • ar8b00059.pdf
View BVdb publication page



Enzyme activation through the utilization of intrinsic dianion binding energy.

Protein Engineering, Design & Selection : Peds
Amyes, T L TL; Malabanan, M M MM; Zhai, X X; Reyes, A C AC; Richard, J P JP
Publication Date: 2017-03-01

Variant appearance in text: HP: D70N
PubMed Link: 27903763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a residue critical for the excision of 3'-blocking ends in apurinic/apyrimidinic endonucleases of the Xth family.

Nucleic Acids Research
Castillo-Acosta, Víctor M VM; Ruiz-Pérez, Luis M LM; Yang, Wei W; González-Pacanowska, Dolores D; Vidal, Antonio E AE
Publication Date: 2009-04

Variant appearance in text: HP: D70N
PubMed Link: 19181704
Variant Present in the following documents:
  • Main text
View BVdb publication page