EBP c.440G>A ;(p.R147H)

Variant ID: X-48385644-G-A

NM_006579.2(EBP):c.440G>A;(p.R147H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: EBP: R147H; rs28935174
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: EBP: 440G>A; Arg147His
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: EBP: R147H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

Diagnostic Pathology
Liu, Yan Y; Wang, Li L; Yang, Yi-Ke YK; Liang, Ying Y; Zhang, Tie-Juan TJ; Liang, Na N; Yang, Li-Man LM; Li, Si-Jing SJ; Shan, Dan D; Wu, Qing-Qing QQ
Publication Date: 2019-07-13

Variant appearance in text: EBP: 440G>A; Arg147His
PubMed Link: 31299979
Variant Present in the following documents:
  • Main text
  • 13000_2019_Article_853.pdf
View BVdb publication page



X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.

Medicine
Liu, Yan Y; Wang, Li L; Xu, Bin B; Yang, Yike Y; Shan, Dan D; Wu, Qingqing Q
Publication Date: 2019-01

Variant appearance in text: EBP: 440G>A
PubMed Link: 30608402
Variant Present in the following documents:
  • Main text
  • medi-98-e13850.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: EBP: 440G>A; Arg147His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: EBP: R147H; rs28935174
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: EBP: R147H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.

Indian Journal Of Dermatology
Ozyurt, Kemal K; Subasioglu, Asli A; Ozturk, Perihan P; Inci, Rahime R; Ozkan, Fuat F; Bueno, Elena E; Cañueto, Javier J; González Sarmiento, Rogelio R
Publication Date: 2015

Variant appearance in text: EBP: R147H
PubMed Link: 25814754
Variant Present in the following documents:
  • Main text
View BVdb publication page



TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

Frontiers In Genetics
Sanchez-Pulido, Luis L; Ponting, Chris P CP
Publication Date: 2014

Variant appearance in text: CDPX2: R147H
PubMed Link: 25566323
Variant Present in the following documents:
  • Main text
  • fgene-05-00439.pdf
View BVdb publication page