HP c.335A>G ;(p.K112R)

Variant ID: 16-72092222-A-G

NM_005143.3(HP):c.335A>G;(p.K112R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A model for Scc2p stimulation of cohesin's ATPase and its inhibition by acetylation of Smc3p.

Genes & Development
Boardman, Kevin K; Xiang, Siheng S; Chatterjee, Fiona F; Mbonu, Udochi U; Guacci, Vincent V; Koshland, Douglas D
Publication Date: 2023-04-13

Variant appearance in text: HP: K112R
PubMed Link: 37055084
Variant Present in the following documents:
  • Main text
  • 277.pdf
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: 335A>G
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page



The molecular coupling between substrate recognition and ATP turnover in a AAA+ hexameric helicase loader.

Elife
Puri, Neha N; Fernandez, Amy J AJ; O'Shea Murray, Valerie L VL; McMillan, Sarah S; Keck, James L JL; Berger, James M JM
Publication Date: 2021-05-26

Variant appearance in text: HP: K112R
PubMed Link: 34036936
Variant Present in the following documents:
  • Main text
  • elife-64232.pdf
View BVdb publication page



Physical Basis for the Loading of a Bacterial Replicative Helicase onto DNA.

Molecular Cell
Arias-Palomo, Ernesto E; Puri, Neha N; O'Shea Murray, Valerie L VL; Yan, Qianyun Q; Berger, James M JM
Publication Date: 2019-04-04

Variant appearance in text: HP: K112R
PubMed Link: 30797687
Variant Present in the following documents:
  • Main text
View BVdb publication page