EGR1 c.446T>A ;(p.L149*)

Variant ID: 5-137802584-T-A

NM_001964.2(EGR1):c.446T>A;(p.L149*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeting DDR2 enhances tumor response to anti-PD-1 immunotherapy.

Science Advances
Tu, Megan M MM; Lee, Francis Y F FYF; Jones, Robert T RT; Kimball, Abigail K AK; Saravia, Elizabeth E; Graziano, Robert F RF; Coleman, Brianne B; Menard, Krista K; Yan, Jun J; Michaud, Erin E; Chang, Han H; Abdel-Hafiz, Hany A HA; Rozhok, Andrii I AI; Duex, Jason E JE; Agarwal, Neeraj N; Chauca-Diaz, Ana A; Johnson, Linda K LK; Ng, Terry L TL; Cambier, John C JC; Clambey, Eric T ET; Costello, James C JC; Korman, Alan J AJ; Theodorescu, Dan D
Publication Date: 2019-02

Variant appearance in text: 225: 446T>A
PubMed Link: 30801016
Variant Present in the following documents:
  • aav2437_Table_S1.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: 446T>A
PubMed Link: 26289392
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_321.pdf
View BVdb publication page



Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

Molecular Vision
Lacassagne, Emmanuelle E; Dhuez, Aurore A; Rigaudière, Florence F; Dansault, Anouk A; Vêtu, Christelle C; Bigot, Karine K; Vieira, Véronique V; Puech, Bernard B; Defoort-Dhellemmes, Sabine S; Abitbol, Marc M
Publication Date: 2011-01-29

Variant appearance in text: 225: L149X
PubMed Link: 21293734
Variant Present in the following documents:
  • Main text
  • mv-v17-309.pdf
View BVdb publication page