Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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