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EGR1 c.187_188delinsCA ;(p.S63H)
Variant ID: 5-137801637-AG-CA
NM_001964.2(
EGR1
):c.187_188delinsCA;(p.S63H)
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 role of phosphagen specificity loops in arginine kinase.
Protein Science : A Publication Of The Protein Society
Azzi, Arezki A; Clark, Shawn A SA; Ellington, W Ross WR; Chapman, Michael S MS
Publication Date: 2004-03
Variant appearance in text: 225: S63H
PubMed Link:
14978299
Variant Present in the following documents:
Main text
View BVdb publication page