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.




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