EGR1 c.1064T>G ;(p.L355R)

Variant ID: 5-137803202-T-G

NM_001964.2(EGR1):c.1064T>G;(p.L355R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular basis of rutin inhibition of protein disulfide isomerase (PDI) by combined in silico and experimental methods.

Rsc Advances
Wang, Xu X; Xue, Guangpu G; Song, Meiru M; Xu, Peng P; Chen, Dan D; Yuan, Cai C; Lin, Lin L; Flaumenhaft, Robert R; Li, Jinyu J; Huang, Mingdong M
Publication Date: 2018-05-17

Variant appearance in text: 225: L355R
PubMed Link: 35541126
Variant Present in the following documents:
  • RA-008-C8RA02683A-s001.pdf
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: 225: 1064T>G
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Orphanet Journal Of Rare Diseases
Chien, Yin-Hsiu YH; Abdenur, Jose E JE; Baronio, Federico F; Bannick, Allison Anne AA; Corrales, Fernando F; Couce, Maria M; Donner, Markus G MG; Ficicioglu, Can C; Freehauf, Cynthia C; Frithiof, Deborah D; Gotway, Garrett G; Hirabayashi, Koichi K; Hofstede, Floris F; Hoganson, George G; Hwu, Wuh-Liang WL; James, Philip P; Kim, Sook S; Korman, Stanley H SH; Lachmann, Robin R; Levy, Harvey H; Lindner, Martin M; Lykopoulou, Lilia L; Mayatepek, Ertan E; Muntau, Ania A; Okano, Yoshiyuki Y; Raymond, Kimiyo K; Rubio-Gozalbo, Estela E; Scholl-Bürgi, Sabine S; Schulze, Andreas A; Singh, Rani R; Stabler, Sally S; Stuy, Mary M; Thomas, Janet J; Wagner, Conrad C; Wilson, William G WG; Wortmann, Saskia S; Yamamoto, Shigenori S; Pao, Maryland M; Blom, Henk J HJ
Publication Date: 2015-08-20

Variant appearance in text: 225: 1064T>G
PubMed Link: 26289392
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_321.pdf
View BVdb publication page