EGR1 c.253A>C ;(p.T85P)

Variant ID: 5-137801703-A-C

NM_001964.2(EGR1):c.253A>C;(p.T85P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

International Journal Of Molecular Sciences
Glotov, Oleg S OS; Savostyanov, Kirill V KV; Nagornova, Tatyana S TS; Chernov, Alexandr N AN; Fedyakov, Mikhail A MA; Raspopova, Aleksandra N AN; Krasnoukhov, Konstantin N KN; Danilov, Lavrentii G LG; Moiseeva, Nadegda V NV; Kalinin, Roman S RS; Tsai, Victoria V VV; Eismont, Yuri A YA; Voinova, Victoria Y VY; Vitebskaya, Alisa V AV; Gurkina, Elena Y EY; Kuzenkova, Ludmila M LM; Sosnina, Irina B IB; Pushkov, Alexander A AA; Zhanin, Ilya S IS; Zakharova, Ekaterina Y EY
Publication Date: 2022-10-26

Variant appearance in text: 225: 253A>C
PubMed Link: 36361766
Variant Present in the following documents:
  • ijms-23-12976.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: 225: 253A>C
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to Sacituzumab Govitecan in Triple-Negative Breast Cancer.

Cancer Discovery
Coates, James T JT; Sun, Sheng S; Leshchiner, Ignaty I; Thimmiah, Nayana N; Martin, Elizabeth E EE; McLoughlin, Daniel D; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Rhrissorrakrai, Kahn K; Utro, Filippo F; Levovitz, Chaya C; Denault, Elyssa E; Walmsley, Charlotte S CS; Kambadakone, Avinash A; Stone, James R JR; Isakoff, Steven J SJ; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Bardia, Aditya A; Ellisen, Leif W LW
Publication Date: 2021-10

Variant appearance in text: 225: T85P
PubMed Link: 34404686
Variant Present in the following documents:
  • candisc-11-2436-s001.pdf
View BVdb publication page



Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to Sacituzumab Govitecan in Triple-Negative Breast Cancer.

Cancer Discovery
Coates, James T JT; Sun, Sheng S; Leshchiner, Ignaty I; Thimmiah, Nayana N; Martin, Elizabeth E EE; McLoughlin, Daniel D; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Rhrissorrakrai, Kahn K; Utro, Filippo F; Levovitz, Chaya C; Denault, Elyssa E; Walmsley, Charlotte S CS; Kambadakone, Avinash A; Stone, James R JR; Isakoff, Steven J SJ; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Bardia, Aditya A; Ellisen, Leif W LW
Publication Date: 2021-10

Variant appearance in text: 225: T85P
PubMed Link: 34404686
Variant Present in the following documents:
  • candisc-11-2436-s001.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: 225: 253A>C
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: 253A>C
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science
Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R
Publication Date: 2019

Variant appearance in text: 225: 253A>C
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: 225: 253A>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: 225: T85P
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page