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EGR1 c.637_638delinsGC ;(p.N213A)
Variant ID: 5-137802775-AA-GC
NM_001964.2(
EGR1
):c.637_638delinsGC;(p.N213A)
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:
Structural Insights into the Broad Substrate Specificity of a Novel Endoglycoceramidase I Belonging to a New Subfamily of GH5 Glycosidases.
The Journal Of Biological Chemistry
Han, Yun-Bin YB; Chen, Liu-Qing LQ; Li, Zhuo Z; Tan, Yu-Meng YM; Feng, Yan Y; Yang, Guang-Yu GY
Publication Date: 2017-03-24
Variant appearance in text: 225: N213A
PubMed Link:
28179425
Variant Present in the following documents:
Main text
View BVdb publication page