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EGR1 c.892_893delinsGC ;(p.Q298A)
Variant ID: 5-137803030-CA-GC
NM_001964.2(
EGR1
):c.892_893delinsGC;(p.Q298A)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: 225: Q298A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page
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: Q298A
PubMed Link:
28179425
Variant Present in the following documents:
Main text
View BVdb publication page