EGR1 c.1039_1040delinsGC ;(p.R347A)

Variant ID: 5-137803177-CG-GC

NM_001964.2(EGR1):c.1039_1040delinsGC;(p.R347A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

The CspC pseudoprotease regulates germination of Clostridioides difficile spores in response to multiple environmental signals.

Plos Genetics
Rohlfing, Amy E AE; Eckenroth, Brian E BE; Forster, Emily R ER; Kevorkian, Yuzo Y; Donnelly, M Lauren ML; Benito de la Puebla, Hector H; Doublié, Sylvie S; Shen, Aimee A
Publication Date: 2019-07

Variant appearance in text: 225: R347A
PubMed Link: 31276487
Variant Present in the following documents:
  • Main text
  • pgen.1008224.pdf
View BVdb publication page