HR c.653A>G ;(p.K218R)

Variant ID: 8-21985302-T-C

NM_005144.4(HR):c.653A>G;(p.K218R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: HR: K218R; rs760032849
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



SARS-CoV-2 whole-proteome sequences from environment as an indicator of community viral distribution, evolution and epidemiological dynamics: A cohort analysis of Austria.

Environmental Microbiology Reports
Magateshvaren Saras, Murali Aadhitya MA; Patro, L Ponoop Prasad LPP; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2022-12

Variant appearance in text: HR: K218R
PubMed Link: 35718540
Variant Present in the following documents:
  • EMI4-9999-0-s001.xlsx, sheet 1
  • EMI4-9999-0-s003.xlsx, sheet 1
View BVdb publication page



SUMOylation of Jun fine-tunes the Drosophila gut immune response.

Plos Pathogens
Soory, Amarendranath A; Ratnaparkhi, Girish S GS
Publication Date: 2022-03

Variant appearance in text: HR: K218R
PubMed Link: 35255103
Variant Present in the following documents:
  • Main text
View BVdb publication page



The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: HR: K218R
PubMed Link: 34109017
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc5.xlsx, sheet 1
View BVdb publication page