HR c.773G>C ;(p.G258A)

Variant ID: 8-21985182-C-G

NM_005144.4(HR):c.773G>C;(p.G258A)

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: G258A; rs1451517637
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



SUSA2 is an F-box protein required for autoimmunity mediated by paired NLRs SOC3-CHS1 and SOC3-TN2.

Nature Communications
Liang, Wanwan W; Tong, Meixuezi M; Li, Xin X
Publication Date: 2020-10-15

Variant appearance in text: HR: G258A
PubMed Link: 33060601
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_19033.pdf
View BVdb publication page



Host immune responses accelerate pathogen evolution.

The Isme Journal
Trivedi, Pankaj P; Wang, Nian N
Publication Date: 2014-03

Variant appearance in text: HR: 773G>C
PubMed Link: 24304673
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases.

Frontiers In Immunology
Federici, Silvia S; Martini, Alberto A; Gattorno, Marco M
Publication Date: 2013-10-31

Variant appearance in text: HR: 773G>C; Gly258Ala
PubMed Link: 24198817
Variant Present in the following documents:
  • fimmu-04-00351.pdf
View BVdb publication page