EGR1 c.415_417delinsATC ;(p.L139I)

Variant ID: 5-137802553-CTG-ATC

NM_001964.2(EGR1):c.415_417delinsATC;(p.L139I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Pirtobrutinib Targets BTK C481S in Ibrutinib-Resistant CLL but Second-Site BTK Mutations Lead to Resistance.

Blood Advances
Naeem, Aishath A; Utro, Filippo F; Wang, Qing Q; Cha, Justin J; Vihinen, Mauno M; Martindale, Stephen P SP; Zhou, Yinglu Y; Ren, Yue Y; Tyekucheva, Svitlana S; Kim, Annette S AS; Fernandes, Stacey M SM; Saksena, Gordon G; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Davids, Matthew S MS; Lederer, James A JA; Zain, Rula R; Smith, C I Edvard CIE; Leshchiner, Ignaty I; Parida, Laxmi L; Getz, Gad G; Brown, Jennifer R JR
Publication Date: 2022-10-26

Variant appearance in text: 225: L139I
PubMed Link: 36287227
Variant Present in the following documents:
  • BLOODA_ADV-2022-008447-mmc1.xlsx, sheet 1
View BVdb publication page



Distribution and antifungal susceptibility pattern of Candida species from mainland China: A systematic analysis.

Virulence
Bilal, Hazrat H; Shafiq, Muhammad M; Hou, Bing B; Islam, Rehmat R; Khan, Muhammad Nadeem MN; Khan, Rahat Ullah RU; Zeng, Yuebin Y
Publication Date: 2022-12

Variant appearance in text: 225: L139I
PubMed Link: 36120738
Variant Present in the following documents:
  • Main text
  • KVIR_13_2123325.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: 225: L139I
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget
Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG
Publication Date: 2017-03-28

Variant appearance in text: 225: L139I
PubMed Link: 28423505
Variant Present in the following documents:
  • oncotarget-08-21290-s007.xlsx, sheet 1
View BVdb publication page



Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01

Variant appearance in text: 225: Leu139Ile
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page



Targeting RSV with vaccines and small molecule drugs.

Infectious Disorders Drug Targets
Costello, Heather M HM; Ray, William C WC; Chaiwatpongsakorn, Supranee S; Peeples, Mark E ME
Publication Date: 2012-04

Variant appearance in text: 225: L139I
PubMed Link: 22335496
Variant Present in the following documents:
  • Main text
View BVdb publication page