GC c.1169del ;(p.P390Lfs*3)

Variant ID: 4-72620220-AG-A

NM_000583.3(GC):c.1169del;(p.P390Lfs*3)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Comparative Genomic Analysis and Physiological Properties of Limosilactobacillus fermentum SMFM2017-NK2 with Ability to Inflammatory Bowel Disease.

Microorganisms
Ann, Sumin S; Choi, Yukyung Y; Yoon, Yohan Y
Publication Date: 2023-02-21

Variant appearance in text: GC: 1167delC
PubMed Link: 36985121
Variant Present in the following documents:
  • microorganisms-11-00547.pdf
View BVdb publication page


Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Frontiers In Genetics
Fan, Yanbin Y; Xu, Zhifei Z; Li, Xing X; Gao, Feng F; Guo, Enyu E; Chang, Xingzhi X; Wei, Cuijie C; Zhang, Cheng C; Yu, Qing Q; Que, Chengli C; Xiao, Jiangxi J; Yan, Chuanzhu C; Wang, Zhaoxia Z; Yuan, Yun Y; Xiong, Hui H
Publication Date: 2022

Variant appearance in text: GC: 1167delC
PubMed Link: 35368679
Variant Present in the following documents:
  • Main text
  • fgene-13-825793.pdf
View BVdb publication page


Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine
Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M
Publication Date: 2020-12-30

Variant appearance in text: GC: 1168delC
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page


Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer.

Journal Of Pathology And Translational Medicine
Hwang, Hye Jung HJ; Nam, Soo Kyung SK; Park, Hyunjin H; Park, Yujun Y; Koh, Jiwon J; Na, Hee Young HY; Kwak, Yoonjin Y; Kim, Woo Ho WH; Lee, Hye Seung HS
Publication Date: 2020-09

Variant appearance in text: GC: 1169delC; Pro390fs
PubMed Link: 32601264
Variant Present in the following documents:
  • Main text
  • jptm-2020-06-01.pdf
View BVdb publication page