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MYOC c.1185T>G ;(p.D395E)
Variant ID: 1-171605395-A-C
NM_000261.1(
MYOC
):c.1185T>G;(p.D395E)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: MYOC: D395E
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: MYOC: D395E
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Molecular Vision
Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K
Publication Date: 2012
Variant appearance in text: MYOC: 1185T>G; Asp395Glu
PubMed Link:
22736945
Variant Present in the following documents:
Main text
mv-v18-1548.pdf
View BVdb publication page