HP c.839A>G ;(p.Y280C)

Variant ID: 16-72094407-A-G

NM_005143.3(HP):c.839A>G;(p.Y280C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural snapshot of a bacterial phytochrome in its functional intermediate state.

Nature Communications
Schmidt, Andrea A; Sauthof, Luisa L; Szczepek, Michal M; Lopez, Maria Fernandez MF; Escobar, Francisco Velazquez FV; Qureshi, Bilal M BM; Michael, Norbert N; Buhrke, David D; Stevens, Tammo T; Kwiatkowski, Dennis D; von Stetten, David D; Mroginski, Maria Andrea MA; Krauß, Norbert N; Lamparter, Tilman T; Hildebrandt, Peter P; Scheerer, Patrick P
Publication Date: 2018-11-21

Variant appearance in text: HP: Tyr280Cys
PubMed Link: 30464203
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7392.pdf
View BVdb publication page



Novel somatic single nucleotide variants within the RNA binding protein hnRNP A1 in multiple sclerosis patients.

F1000Research
Lee, Sangmin S; Levin, Michael M
Publication Date: 2014

Variant appearance in text: HP: 839A>G
PubMed Link: 25254102
Variant Present in the following documents:
  • f1000research-3-5669.pdf
View BVdb publication page