EEA1 c.2426A>G ;(p.K809R)

Variant ID: 12-93196424-T-C

NM_003566.3(EEA1):c.2426A>G;(p.K809R)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

E3 ubiquitin ligase RNF170 inhibits innate immune responses by targeting and degrading TLR3 in murine cells.

Cellular & Molecular Immunology
Song, Xiaoqi X; Liu, Shuo S; Wang, Wendie W; Ma, Zhongfei Z; Cao, Xuetao X; Jiang, Minghong M
Publication Date: 2020-08

Variant appearance in text: EEA1: K809R
PubMed Link: 31076723
Variant Present in the following documents:
  • Main text
View BVdb publication page


Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

Journal Of Lipid Research
Wang, Yan Y; Huang, Yongcheng Y; Hobbs, Helen H HH; Cohen, Jonathan C JC
Publication Date: 2012-09

Variant appearance in text: EEA1: K809R
PubMed Link: 22764087
Variant Present in the following documents:
  • Main text
  • 1932.pdf
View BVdb publication page