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EGR1 c.385_386delinsTG ;(p.P129C)
Variant ID: 5-137802523-CC-TG
NM_001964.2(
EGR1
):c.385_386delinsTG;(p.P129C)
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:
CHL1 is a nuclear protein with an essential ATP binding site that exhibits a size-dependent effect on chromosome segregation.
Nucleic Acids Research
L Holloway, S S
Publication Date: 2000-08-15
Variant appearance in text: 225: p129C
PubMed Link:
10931920
Variant Present in the following documents:
Main text
View BVdb publication page