EGR1 c.580_582delinsATC ;(p.V194I)

Variant ID: 5-137802718-GTG-ATC

NM_001964.2(EGR1):c.580_582delinsATC;(p.V194I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: 225: V194I
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: 225: V194I
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: 225: V194I
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



Genome instability drives epistatic adaptation in the human pathogen Leishmania.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bussotti, Giovanni G; Piel, Laura L; Pescher, Pascale P; Domagalska, Malgorzata A MA; Rajan, K Shanmugha KS; Cohen-Chalamish, Smadar S; Doniger, Tirza T; Hiregange, Disha-Gajanan DG; Myler, Peter J PJ; Unger, Ron R; Michaeli, Shulamit S; Späth, Gerald F GF
Publication Date: 2021-12-21

Variant appearance in text: 225: V194I
PubMed Link: 34903666
Variant Present in the following documents:
  • pnas.2113744118.sd16.xlsx, sheet 4
View BVdb publication page



High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One
Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J
Publication Date: 2020

Variant appearance in text: 225: Val194Ile
PubMed Link: 32045463
Variant Present in the following documents:
  • pone.0229020.s004.xlsx, sheet 1
View BVdb publication page



Computationally-driven identification of antibody epitopes.

Elife
Hua, Casey K CK; Gacerez, Albert T AT; Sentman, Charles L CL; Ackerman, Margaret E ME; Choi, Yoonjoo Y; Bailey-Kellogg, Chris C
Publication Date: 2017-12-04

Variant appearance in text: 225: V194I
PubMed Link: 29199956
Variant Present in the following documents:
  • elife-29023.pdf
View BVdb publication page



Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing.

Oncogene
Huskova, H H; Ardin, M M; Weninger, A A; Vargova, K K; Barrin, S S; Villar, S S; Olivier, M M; Stopka, T T; Herceg, Z Z; Hollstein, M M; Zavadil, J J; Korenjak, M M
Publication Date: 2017-10-26

Variant appearance in text: 225: V194I
PubMed Link: 28692054
Variant Present in the following documents:
  • onc2017215x4.xls, sheet 1
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: 225: Val194Ile
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Annals Of Neurology
Bello, Luca L; Kesari, Akanchha A; Gordish-Dressman, Heather H; Cnaan, Avital A; Morgenroth, Lauren P LP; Punetha, Jaya J; Duong, Tina T; Henricson, Erik K EK; Pegoraro, Elena E; McDonald, Craig M CM; Hoffman, Eric P EP; ,
Publication Date: 2015-04

Variant appearance in text: 225: V194I
PubMed Link: 25641372
Variant Present in the following documents:
  • Main text
  • ana0077-0684.pdf
View BVdb publication page